Hematology And Blood Transfusion Science Assignment Sample

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Introduction

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Section A

Pathophysiology

The disease Pancytopenia described as a disease in which there is a very low count of blood cells or corpuscles in the body. There are namely three types of blood cells in our body. They are - red blood cells or RBCs, platelets, and white blood cells or WBCs.bones have a soft spongy inner material known as bone marrow. These three blood cells produced inside this spongy layer called the bone marrow. It is a disease related to the formation of blood in the stem cells (Lancaster, 2020). A genetic disorder may also give rise to this type of disease. Certain types of disease and drugs may also lead to the cause of this disease. 

Pancytopenia is a serious blood disease as it is mainly the combination of three types of blood disease. Leucopenia, anemia, and thrombocytopenia are the three types of blood disease associated with pancytopenia. It musttreat without any delay otherwise; it may prove to the health of the individual suffering from this disease. Blood disease anemia is a condition in which there is a very low count of erythrocytes or red blood cells. The second blood condition called leucopenia is a disease where there is a very low count of leucocytes or white blood corpuscles (Depuis, 2021). The third type of blood disease associated with pancytopenia is thrombocytopenia in which there is a very low count of platelets in the body. Pancytopenia of very mild level usually does not possess any types of symptoms. It is observed by the physician while doing certain kinds of blood tests for a different purpose. There are various types of symptoms associated with this type of blood disease. The symptoms include laziness and weakness in the body, purple-colored tiny spots on the body that called petechial, bleeding from the nose and gums, skin getting paler, and shortness in the rate of breathing. Purple-colored larger spots called purpura appear on the body of the patient suffering from this type of blood disease (King-Robson, 2021). Different kinds of diseases like cancer, certain kinds of infections caused by viruses, and drugs that affect the bone marrow lead to the occurrence of this fatal disease. Many complications and critical issues arise due to pancytopenia. A lower count of leucocytes or white blood cells leads to various infections in the body (Shibutani, 2022). Any kind of infection is unable to be healed in the absence of white blood corpuscles. A high rate of bleeding occurs, as there is a very low count of platelets in the body. A person who has a very low count of red blood cells faces many problems. Red blood cells are responsible for carrying oxygen to every part of the body through blood circulation (Nath, 2021). A low rate of red blood corpuscles production may lead to weakness, pain in the chest, and even fatigue. The cause of this blood disease pancytopenia divided into two broad levels or categories. They classified under peripheral type and central type of pancytopenia. The central type caused due to the low or very few blood cell productions in the bone marrow. The peripheral type is usually the effect of certain kinds of drugs and medications that led to the production of a very low number of red blood cells (Ni, 2019). The peripheral category leads to indirect destruction of the blood cells. Deficiency in the level of nutrition is usually the cause of pancytopenia. a person not receiving the right amount of nutrients that help in the production of the blood cells may be led to pancytopenia. A person is immune-deficient is at high risk of this disease. 

Laboratory Test

The doctor identifies pancytopenia by performing a kind of test called CBC test. This blood test gives a clear idea of the number of counts of the blood cells (Issa, 2020). It is helpful in measuring the count of each cell in the blood. The professionals in the department of health may count the number of blood cells in the patient's body by examining the smear of blood under a microscope. Various other tests performed to identify the specific cause of pancytopenia. The tests include- a test for checking the level of immunity in the body, a test for checking the deficiency level of nutrition in the body, and a test for the presence of any virus in the body (Vargas-Carretero, 2019). It is also necessary to check the functioning of the bone marrow in the body. A sample of bone marrow takes from the hip region of the body to identify the functioning of the bone marrow. various causes of this blood disease may be treated by correcting and improving the deficiency level of the nutrients in the body, by putting a stop to the drugs or the medicines taken by the patient, treatment of infections caused by certain diseases like tuberculosis, treatment of cancer and managing the conditions of various autoimmune disease and disorders(Russell,2021). Doctors or physicians may sometimes advise the patient for blood transfusion when the doctor finds that there is an extremely low number or count of the three types of blood cells in the body. 

The patient suffering from pancytopenia and having a very low count of blood cells has to undergo antibiotic therapy. Antibiotic therapy helps in decreasing or reducing the rate of infections in the body. This antibiotic therapy usually recommended for patients having less than 500 counts of white blood cells per 100ml of blood (Gnanaraj, 2018) .physicians recommend and administers certain kind of medications that helps in the production of bone marrow. A person requires a sufficient amount of blood in the body to fight many infections and lead a happy life. Various drugs stimulate the level of bone marrow in the body. Pegfilgrastim is an effective and efficient medicine that helps in the production of bone marrow. An efficient way of treating the patient at the primary level by stimulating the increase of bone marrow may help this blood disease from becoming life threatening.

Testing methods for this aberration

Complete blood count test
Complete blood count test of affected patients bearing some symptoms like weakness, fatigueless , dizziness, numbness of appendages, paleness of skin as well as abnormal flow and bleeding , rashes and red spots all over the body, abnormality increase in the rate of heart beat.
The CBC test requires some process like first locate the area of skin then sterilization process is required, cleaning of the identified skin with disinfecting material to ensure the absence of microorganism such as several bacteria, virus, protozoa as well as fungus on the skin. Then tie with an elastic band above the area of the skin from where the blood is to be sucked out. A sterilized needle is inserted in parts of the body usually the arms of the body where the veins carrying the blood is present. Next the sample of blood is pulled out into a sterilized vial. The last step includes releasing of the band and removing the needle from the blood carrying vein. This test requires just a few second for detection blood count to determine any causative agent of panchytopenia.

An optimum level of blood cells is necessary for the functioning of blood in the body such as the circulatory system, oxygen and minerals transportation, etc. Sometimes there are some abnormalities that lead to malfunctioning of the blood corpuscles like some disorders and abnormalities of bone marrow resulting producing a few numbers of blood cell formation and this abnormality leads to destroying blood cells within a short period and this triggers a deficiency of iron elements results in the generation of anaemic condition (Gnanaraj et al., 2018). Frequent anaemic condition of individual triggers this situation named pancytopenia. It affects directly the immune system of the body resulting in abnormalities in a process of blood count and there are abnormalities in blood corpuscles within a blood cell. The peripheral blood smear is necessary to detect this abnormality as it shows several symptoms like suppression of bone marrow, frequent coagulopathy and hypersplenism (Russell et al, 2021). Sometimes a virus named sepsis is responsible to generate this abnormality like fatigue, breathing problem, a b weakness as well as dizziness, some red patches on the skin of the affected individual, abnormal heartbeat, sometimes fever occurs, skin becomes pale, formation of skin rashes, abnormal bleeding due to abnormalities of blood coagulating process. The treatment of this disease involves some home remedies such as taking and consuming herbs named leaves of papaya, garlic consuming etc. The deficiency of B12 is also responsible for pancytopenia. Several drugs are there to treat this disease like some bone marrow stimulating drugs which are responsible for normal blood cell formation and maintaining an optimum level of blood by preventing anaemic conditions (Ni et al., 2019). It is a disorder that alters the normal numbers of blood corpuscles like red blood corpuscles, platelets and white blood corpuscles. Some causes have possibilities for generating this abnormality like cancerous cells leading to this disease, bone marrow disorders altering the blood corpuscle formation; some infections are responsible for this syndrome. Sometimes exposure to some toxins like radiation from radio active particles along with effects of arsenic like heavy molecule combined causes this disease. Cancer patients have to take chemotherapy-related treatment which is one of the causes of pancytopenia and the side effects of some medicines lead to the causative agent of this disease (Torrez et al., 2022). Chemotherapy-related treatment is comparatively better way to treat panchytopenia as it helps to reduce abnormalities such as leukaemia, bone marrow. 

This disease in the case of pregnant women triggers some fetal abnormalities like retarded growth, haemorrhage, sepsis in the mother, malformation of the placenta and transportation system etc. Thyroxine treatment along with glucocorticoid therapy leads to the treatment of this disease. Pancytopenia leads to abnormalities in the iron level of the affected individual as it triggers the hypercellular in the bone marrow and there is the presence of some monocytosis that results hypoplastic bone marrow and it regards myeloid leukaemia, hyperplasia. Thyroxine treatment is considered as effective way of treatment to control hypothyroidism which provide support myxedema coma. There are some lesions between the spaces of bone marrows hence its treatment and balanced dietary intake are necessary for prevention.

Pancytopenia

An optimum level of blood cells is necessary for the functioning of blood in the body such as the circulatory system, oxygen and minerals transportation, etc. Sometimes there are some abnormalities that lead to malfunctioning of the blood corpuscles like some disorders and abnormalities of bone marrow resulting producing a few numbers of blood cell formation and this abnormality leads to destroying blood cells within a short period and this triggers a deficiency of iron elements results in the generation of anaemic condition (Gnanaraj et al., 2018). Frequent anaemic condition of individual triggers this situation named pancytopenia. It affects directly the immune system of the body resulting in abnormalities in a process of blood count and there are abnormalities in blood corpuscles within a blood cell. The peripheral blood smear is necessary to detect this abnormality as it shows several symptoms like suppression of bone marrow, frequent coagulopathy and hypersplenism (Russell et al, 2021). Sometimes a virus named sepsis is responsible to generate this abnormality like fatigue, breathing problem, a b weakness as well as dizziness, some red patches on the skin of the affected individual, abnormal heartbeat, sometimes fever occurs, skin becomes pale, formation of skin rashes, abnormal bleeding due to abnormalities of blood coagulating process. The treatment of this disease involves some home remedies such as taking and consuming herbs named leaves of papaya, garlic consuming etc. The deficiency of B12 is also responsible for pancytopenia. This abnormality is one of the inherited diseases which results in the transfer of an abnormal gene from the parent cell to the daughter cell which alters the functioning f cells and results to show disorders. Pancytopenia can be cured through the stimulation of RBC mostly in the bone marrow. Application of drug, blood transfusion, transplant of bone marrow can prevent damage of stem cell. 

Several drugs are there to treat this disease like some bone marrow stimulating drugs which are responsible for normal blood cell formation and maintaining an optimum level of blood by preventing anaemic conditions (Ni et al.,2019). It is a disorder that alters the normal numbers of blood corpuscles like red blood corpuscles, platelets and white blood corpuscles. Some causes have possibilities for generating this abnormality like cancerous cells leading to this disease, bone marrow disorders altering the blood corpuscle formation, some infections are responsible for this syndrome. Sometimes exposure to some toxins like radiation from radio active particles along with effects of arsenic like heavy molecule combined causes this disease. Cancer patients have to take chemotherapy-related treatment which is one of the causes of pancytopenia and the side effects of some medicines lead to the causative agent of this disease (Torrez et al., 2022). 

Section B

Pathophysiology

Bone marrow is responsible for the formation and production of blood cells but some factors hamper this blood cell formation and cause several abnormalities within the blood cell resulting in megaloblastic anaemia like abnormalities. Central dogma comprises Replication which means DNA synthesis from the parent DNA strand, transcription process which means the formation of RNA from the replicated DNA strand and finally the translation process which means the formation and synthesis of protein from the polymer of amino acid sequence (Obeagu et a.l, 2021). There is a codon that consists of three amino acids and these three amino acids are responsible for the formation of a particular protein which is required for the development of cells and the nourishment of tissue. Here, megaloblastic anaemia is a result of the inhibition of the DNA synthesis process at the time of Red blood corpuscle production and there the haemoglobin protein synthesis plays a pivotal role as it is responsible for pigmentation and transport of oxygen within the cell is possible. In case of impaired and mutated or retarded DNA is unable to synthesise protein and it is unable to complete the cell division process which impacts directly on the central dogma process (Chandwani et al.,2021). In this disease, the progress from the G2 stage to the mitosis phase is not possible and the synthesis phase which is responsible for the DNA synthesis process is not possible. These factors simultaneously effects and impact the alteration of protein synthesis results in this disease named megaloblastic anaemia. The inhibition for entering in mitosis phase from the G2 phase leads to continuing its cell division without proper process and it results in macrocytosis of the cell. Three are some factors that effects the cell division results in this anaemia and these factors are deficiency of vitamin B12 and folic acid deficiency which are responsible for impaired DNA synthesis, it is responsible for cell division delays and impacts the haemoglobin (Hb) synthesis (Pakalapati and Shanwaz, 2020). Haemoglobin is a protein that consists of a globin protein in its surrounded peripheral region along with a heme group in its centre point and it is a tetrahedral structure. There are four subunits of a haemoglobin molecule with alpha particle and beta particle and the structure of this haemoglobin molecule is responsible to bind with oxygen molecule for transportation of oxygen and to collect the excretory substance of the body. These combined leads to the formation of mature DNA which is defective and this is a causative agent of Megaloblastic Anaemia. 

Megaloblastic anaemia results in the formation of macrocytic anaemia which results in abnormally large sized RBC and further development of this results in the formation of giant metamyelocytes (Iqbal et al., 2021). There are some cascading chemical reaction such as the transformation of Methionine from the Homocysteine is possible by enzyme activity. There is another chemical reaction as the chemical analysis of this defect reveals the formation of Thymidine Triphosphate. This synthesis is possible by the combined effect of the abundance of vitamin B12 as well as Folic acid. 

Symptoms

 This abnormality reveals a situation where abnormal structure as well as immature red blood corpuscles formation. Bone marrow is a component that presents within the bones of the animal body and it is responsible for the formation of blood cells. Some significant symptoms of this disease are lowering appetite, abnormalities in skin colour, some irritations, diarrhoea, some difficulties in walking, abnormalities in the tongue, numbness of the appendages etc. The formation of megaloblasts in the hypersegmentation of neutrophils creates some morphological abnormalities (Afzal et al., 2020). There is an abnormality related to the malabsorption of cobalamin which is vitamin B-12. Abnormal absorption pathway for folic acid results in the changes in the receptor sites of the haemoglobin molecule. The cobalamine deficiency leads to manifestations of neurones such as several pains in appendages, vision problems etc. Next, it comes to beefy redness on the tongue, soreness of the mouth, hyporeflexia etc (Kene. and Dhanawade 2020). Iron is one of the main components for pregnant women but the association with this disease has a direct effect on iron deficiency as the malformed and abnormal cell division leads to some abnormalities resulting in anaemia. It has a direct impact on the growth of features as the medium for transportation between mother and foetus is dependent on a healthy normal placenta formation. This anaemia leads to some difficulties in the formation of the placenta as a results transportation of nutrients from the mother body to the foetal body as well as the transportation from the foetus body to the mother body becomes abnormal. Sometimes this results in abnormal foetus growth, abnormalities of its growth and nutrition, and micro and microelement deficiency occur.

Causes

There are some factors that result in these abnormalities, these factors are deficiency of a component of B complex vitamin that is lack of B12 vitamin. There are some vitamins whose necessary in the human body as well as the animal cells is necessary as it protects the body and acts as body building food (Chauhan et al.,2020). Dietary intake is a way to consume this kind of food material like vitamins, and minerals for absorption in our cells. Lack of this vitamin is possible by dietary intake related abnormalities is one of the causes of this anaemia. Next, the factor comes to some intrinsic factors abnormalities like chronic gastritis, sometimes gastric surgery along with some absence in the congenital absence and in case of some autoimmune disease such as pernicious anaemia is another factor (Butola et al.2020). The haemoglobin of the human body is the only pigment of blood cells that is responsible for carrying oxygen by forming oxyhaemoglobin and the excreted carbon dioxide in the form of carbon monoxide is bound with the molecule of haemoglobin results the formation of carboxyhaemoglobin. There are some abnormalities regarding the oxygen transformation dut the modification of the cell by generating some inhibitor factors which is unable to bind with the oxygen molecule results triggering some hazards related to the deficiency of oxygen within the cell and hampering the circulation system of the body. Malabsorption of vitamin B12 is possible by the changes in the configuration of receptors. This nutritional anaemia is one of the causes of generating some complications in a pregnant woman as there are some barriers to the oxygen transportation system and iron deficiency is a common as the core structure of a blood cell consists of an iron molecule hence in the case of malformation of blood cell leads to generate several adverse effects on the pregnant women (S?owi?ska and Domarecki 2021). One of the major causes of this disease is a deficiency of folate such as folic acid deficiency as folic acid is responsible to maintain and control the blood level of the body. Impaired absorption of some nutrients, microelements and vitamins leads to creating this disease. The functioning of folic acid is important for the formation and production of new cells in the body and it assists to alter gene expression in chromosomes resulting in the prevention of uncontrol cell division within a cell. Utilization of iron is possible by the effect of folic acid as well as vitamin B12 (Lim et al.2022). These causative agents lead to changes in bone marrow, peripheral blood, uncontrol division of epithelium of blood cells etc. Consuming some drugs might lead to altering the functions of some proteins and it hampers the association of haemoglobin molecule with an oxygen molecule. Another causative agent of this disease is congenital folate which is inherited results in malformation of folic acid and it triggers a genetic problem like megaloblastic anaemia as a results absorption of folic acids and other components in the intestine of infants becomes abnormal which triggers long term disabilities and abnormalities in the oxygen transportation to the development of both physical and metal such as intellectual abnormalities occur. 

Treatment

As the main causative agents of this disease are a lack of vitamin B12 and folic acid hence the abundance amount of these two components in the diet is necessary by intaking through food or by consuming vitamin capsules which mitigate these defects related to megaloblastic anaemia. The optimum amount of folate is responsible to control some neurological symptoms. Prevention against bacterial outgrowth along with supplementary intaking is one of the important treatments (Munsaka and Ndhlovu, 2018). There are some therapeutic procedures for getting normal cell functioning results maintaining the reversal procedure from megaloblastic cells to normoblasts cells. Scrum cobalamine treatment is the main part to treat this disease of blood corpuscles and the first month of the treatment reveals proper functioning of peripheral blood cells which is macrocytosis (Torrez et al.,2022). There are some neurological improvements related to these abnormalities. After this treatment, the platelet count is a major step for this treatment. Many infants are the sufferer of this anaemia hence consuming plenty amount of folic acid along with B12 is necessary greatly to prevent some health as well as mental hazards.

References

Afzal, T., Ashraf, N., Munir, S. and Tabassum, R., 2020. Megaloblastic anaemia in a 9-weeks old infant: A case report. JPMA, 2020.

Butola, L.K., Kute, P.K., Anjankar, A., Dhok, A., Gusain, N. and Vagga, A., 2020. Vitamin B12-do you know everything. Journal of Evolution of Medical and Dental Sciences, 9(42), pp.3139-47.

Chandwani, M., Spilioti, D., How-Yaw, S., Mathapati, D. and Yong, J., 2021, September. Bilateral severe proliferative retinopathy, macular oedema, and lack of macrocytosis in an adolescent male with thiamine-responsive megaloblastic anaemia. In HORMONE RESEARCH IN PAEDIATRICS (Vol. 94, No. SUPPL 1, pp. 236-237). ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND: KARGER.

Chauhan, V., Chaudhary, R. and Nage, S., 2020. Clinico-haematological profile of children with vitamin B12 deficiency anaemia. Sri Lanka Journal of Child Health, 49(4), pp.320-324.

Depuis, Z., Gatineau-Sailliant, S., Ketelslegers, O., Minon, J.M., Seghaye, M.C., Vasbien, M. and Dresse, M.F., 2022. Pancytopenia Due to Vitamin B12 and Folic Acid Deficiency—A Case Report. Pediatric Reports, 14(1), pp.106-114.

Gnanaraj, J., Parnes, A., Francis, C.W., Go, R.S., Takemoto, C.M. and Hashmi, S.K., 2018. Approach to pancytopenia: Diagnostic algorithm for clinical hematologists. Blood reviews, 32(5), pp.361-367.

Gnanaraj, J., Parnes, A., Francis, C.W., Go, R.S., Takemoto, C.M. and Hashmi, S.K., 2018. Approach to pancytopenia: Diagnostic algorithm for clinical hematologists. Blood reviews, 32(5), pp.361-367.

Iqbal, M.A., Niroula, R., Singh, P. and Khan, M., 2021. Tongue disorders due to megaloblastic anaemia and its management: A case report. Update Dental College Journal, 11(1), pp.26-28.

Issa, N., Lacassin, F. and Camou, F., 2020. First case of persistent pancytopenia associated with SARS-CoV-2 bone marrow infiltration in an immunocompromised patient. Annals of Oncology, 31(10), pp.1418-1419.

Kene, M.K. and Dhanawade, S., 2020. Clinicohematological profile of megaloblastic anaemia. International J. of Healthcare and Biomedical Research, 8(03), pp.52-57.

King-Robson, J., Marshall, J., Smith, F., Willoughby, L., Mansour, S. and Sztriha, L., 2021. Ataxia-pancytopenia syndrome due to a de novo SAMD9L mutation. Neurology Genetics, 7(3).

Lancaster, I., Patel, D., Sethi, V., Connelly, W. and Namey, J., 2022. Myelodysplastic syndrome in a case of new?onset pancytopenia. Clinical Case Reports, 10(3), p.e05533.

Lim, J., Hall, R., Grist, S. and Ross, D.M., 2022. Identification of two novel transcobalamin two variants associated with developmental delay and megaloblastic anaemia in infancy. Pathology.

Munsaka, S.M. and Ndhlovu, J., 2018. Vitamin B12 and Folate deficiency in Megaloblastic Anaemia diagnosed morphologically at the University Teaching Hospital, Lusaka, Zambia.

Nath, U.K., Bhattacharyya, D., Chattopadhya, D., Dhingra, G., Azad, S. and Mohanty, A., 2021. Visceral leishmaniasis masquerading as drug-induced pancytopenia in myasthenia gravis. Drug discoveries & therapeutics, 15(1), pp.48-50.

Ni, D., AlZahrani, F. and Smylie, M., 2019. AIHA and pancytopenia as complications of pembrolizumab therapy for metastatic melanoma: a case report. Case Reports in Oncology, 12(2), pp.456-465.

Ni, D., AlZahrani, F. and Smylie, M., 2019. AIHA and pancytopenia as complications of pembrolizumab therapy for metastatic melanoma: a case report. Case Reports in Oncology, 12(2), pp.456-465.

Obeagu, E.I., Babar, Q. and Obeagu, G.U., 2021. Megaloblastic Anaemia-A Review. Int. J. Curr. Res. Med. Sci, 7(5), pp.17-24.

Pakalapati, P. and Shanwaz, A., 2020. Anaemic retinopathy in megaloblastic anaemia. Nepalese Journal of Ophthalmology, 12(2), pp.313-316.

Russell, A.J., Gray, P.E., Ziegler, J.B., Kim, Y.J., Smith, S., Sewell, W.A. and Goodnow, C.C., 2021. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression. Proceedings of the National Academy of Sciences, 118(34).

Russell, A.J., Gray, P.E., Ziegler, J.B., Kim, Y.J., Smith, S., Sewell, W.A. and Goodnow, C.C., 2021. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression. Proceedings of the National Academy of Sciences, 118(34).

Shibutani, M., Okazaki, Y., Kashiwagi, S., Nagahara, H., Fukuoka, T., Iseki, Y., Maeda, K., Hirakawa, K. and Ohira, M., 2022. Severe pancytopenia caused by trifluridine/tipiracil in patients with metastatic colorectal cancer and an impaired renal function: A case report. Clinical Case Reports, 10(3), p.e05544.

S?owi?ska, A. and Domarecki, P., 2021. 395 Severe neurological symptoms in a 7.5-month-old girl with megaloblastic anaemia and methylmalonic aciduria–case report.

Torrez, M., Chabot?Richards, D., Babu, D., Lockhart, E. and Foucar, K., 2022. How I investigate acquired megaloblastic anemia. International Journal of Laboratory Hematology.

Torrez, M., Chabot?Richards, D., Babu, D., Lockhart, E. and Foucar, K., 2022. How I investigate acquired megaloblastic anemia. International Journal of Laboratory Hematology.

Vargas-Carretero, C.J., Fernandez-Vargas, O.E., Ron-Magaña, A.L., Padilla-Ortega, J.A., Ron-Guerrero, C.S. and Barrera-Chairez, E., 2019. Etiology and clinico-hematological profile of pancytopenia: experience of a Mexican Tertiary Care Center and review of the literature. Hematology, 24(1), pp.399-404.

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