Detailed Report on Hypochromic Anaemia: Causes, Diagnosis, and Trends

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This report provides a comprehensive overview of hypochromic anaemia, a condition characterized by lower than normal haemoglobin levels in red blood cells, resulting in a paler color. It delves into the various causes, including iron deficiency anaemia, thalassemia, sideroblastic anaemia, and anaemia of chronic disease, explaining their underlying mechanisms. The report also details the diagnostic tests employed, such as CBC, serum ferritin, HPLC, and electrophoresis, along with their advantages and limitations. Furthermore, it discusses differential diagnosis, current trends in treatment, and future developments, such as government health measures and financial aid for economically unstable patients. The report concludes by emphasizing the importance of accurate diagnosis and appropriate treatment for managing these conditions effectively.
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Haematology
2/17/20
Running Head: ANAEMIA 0
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ANAEMIA 1
Contents
Introduction................................................................................................................................2
Causes........................................................................................................................................2
Tests used...................................................................................................................................3
Advantages and Disadvantages..............................................................................................3
Differential Diagnosis................................................................................................................3
Current Trends and Future Developments.................................................................................4
Conclusion..................................................................................................................................5
References..................................................................................................................................6
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ANAEMIA 2
Introduction
Hypochromic anaemia is a condition in which the level of haemoglobin level is less than the
amount found in normal RBCs. Hence, the colour results in paler than the normal RBC
colour. It is acquired as well as inherent in some cases (Merritt, 2019). This report discusses
about the different causes of Hypochromic anaemia which includes Thalassemia, Iron
deficiency, Sideroblastic and Chronic-disease anaemia and their differential diagnosis.
Moreover, it also discusses the tests used during diagnosis, advantages and limitation if these
tests and developments in the current trends.
Causes
Iron deficiency anaemia is caused due to low iron diet which do not fulfil the optimal iron
requirements. Excessive blood loss due to injury or heavy bleeding also results in iron
deficiency in the body. It is also caused due to rare genetic disorder named as TMRPSS6
gene mutation, which causes excessive production of hepcidin hormone in the body and the
hormone results in blocking the site of iron absorption in the intestine (National Heart, Lung
and Blood Institute , 2020).
Anaemia of chronic disease is caused due to impaired functioning of erythropoiesis and
erythropoietin. It can also be caused due to imbalanced and discrete distribution of iron
hinders in formation of new RBC despite of sufficient availability of iron in the body.
Moreover, the immune system of the patients suffering from chronic disease produces a
hormone cytokine which hinders in the storage and transport of iron from the cells (Means &
Quillen, 2018).
Thalassaemia is a genetic disorder which is inherited during birth. It is classified into two
types alpha and beta thalassaemia. It is caused due to mutation in haemoglobin chain either in
alpha, beta or both which results in lack of haemoglobin in the RBC and hence causes
anaemic condition (Tidy, 2018).
Sideroblastic anaemia is inherited disorder which results from abnormal production of red
blood cells during haem synthesis. It also results from accumulation of excess iron in the
mitochondria at the germinal stage which usually indicates normal or high level of iron in
body (Ashorobi & Chhabra, 2019).
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ANAEMIA 3
Tests used
Initially, the test that need to be performed after collection of blood sample from the patient is
the CBC test. It gives complete details about quantity or volume of different blood cells such
as RBC, WBC and platelet count, haemoglobin and haematocrit level, RBC distribution
width, Mean corpuscular volume and various other indices. Serum ferritin, serum iron
binding capacity tests are performed to check iron content in cells. Further, blood smear is
performed to have a microscopic view of the blood cells (American Society of Hematology,
2020).
In case of the inherent disorders, the haemoglobin electrophoresis and high-performance
liquid chromatography is performed to get detailed information about the haemoglobin bands
and their levels. Moreover, prevalence of the disorder in the family history is looked to get
confirmation of the disorder in an individual (Tidy, 2018) .
Advantages and Disadvantages
CBC is performed using the automated instrument which gives instant results and relatively
makes it cost effective per test. Nonetheless, it cannot differentiate distinct and clear
variances in morphology such as related to shape, size, colour, lumping of cells. HPLC helps
in separating protein instantly that are hard to differentiate from each other. It provides with
the accurate reading of the haemoglobin level in spite of the low concentration of
haemoglobin level. However, it lacks in distinguishing Haemoglobin S/β° thalassemia from
Haemoglobin S/S. Haemoglobin electrophoresis is quick and efficient in screening the low
concentration samples. However, broad protein bands overlap the abnormal haemoglobin
making it difficult to assess. While performing Quantitative densitometry on Hb of low
concentration which is traced as abnormal such as HbA2 and HbF, gives an inaccurate result
(Bender, 2017).
Differential Diagnosis
Iron Deficiency Anaemia is diagnosed in the medical laboratory using CBC test, serum
ferritin and iron binding test. In case of IDA, the test results in low haemoglobin,
haematocrit, serum iron, ferritin and MCV. While high level of transferrin. Further, in
peripheral blood smear test, small oval-shaped cells can be seen with pale coloured patches in
it (American Society of Hematology, 2020).
Anaemia of chronic disease shows elevated level of serum ferritin while low serum iron level
as well as decreased serum iron binding capacity. This diagnostic indication differs it from
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ANAEMIA 4
the iron deficiency anaemia, which usually generates confusion between the two (Means &
Quillen, 2018).
Thalassaemia is also diagnosed using complete blood count test, Further, HPLC and
Electrophoresis are also performed for extra findings. Lastly, confirmed by looking its
occurrence in family history. Increased level of haemoglobin A2, fetal-haemoglobin during
electrophoresis is main point of distinction (Tidy, 2018).
Sideroblastic Anaemia results in elevated RDW, serum iron and ferritin level. While low
MCV and MCH level can be observed. Further, using Perl’s reaction, ring sideroblasts on the
stain of blood iron in the bone marrow is detected (Ali, 1976).
Current Trends and Future Developments
In case of IDA, lack of nutrition is a major issue is directly related to poverty. It can also be
observed that the countries with poor economy are more likely to fall into anaemic diseases.
Hence, the government and various health organizations are taking health measures to control
and eradicate the frequency of the anaemic cases. Parallel with this financial aid and
insurance policies are being generated to help the economically unstable patients in the
treatment of thalassaemia or sideroblastic which involves blood transfusion and iron
chelation methods considered an expensive treatment helps in treating genetically inherited
anaemia (Das, 2015).
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ANAEMIA 5
Conclusion
This report discussed about the haematological findings of different hypochromic anaemia. It
can be deduced that it can be acquired due to nutritional imbalance or can be inherited due to
genetic mutation or abnormalities. For instance, in case of iron deficiency anaemia it is
acquired due to malnutrition and iron deficiency in the diet. While thalassaemia and
sideroblastic anaemia are hereditary disorder which an individual inherits from their parents
at birth. Since, moderately severe anaemia is difficult to diagnose. Therefore, the symptoms
must be looked carefully and proper diagnosis and treatment must be done to handle and cure
these conditions.
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ANAEMIA 6
References
Ali, M. A. M., 1976. The Hypochromic Anemias. Cam Fam Phsician, 12.Volume 22.
American Society of Hematology, 2020. American Society of Hematology.
Ashorobi, D. & Chhabra, A., 2019. Sideroblastic Anemia. NCBI, 08 05.
Bender, M. A., 2017. Hemoglobin Assays: Advantages and Disadvantages. s.l.:s.n.
Das, P., 2015. Can we eliminate nutritional anaemia in the near future?. South East Asia
Journal of Public Health, 09.
Means, R. T. & Quillen, J. H., 2018. Anemia of Chronic Disease. National Organization of
Rare Disorders.
Merritt, B. Y., 2019. Mean Corpuscular Hemoglobin (MCH) and Mean Corpuscular
Hemoglobin Concentration (MCHC). [Online]
Available at: https://emedicine.medscape.com/article/2054497-overview#a2
[Accessed 17 02 2020].
National Heart, Lung and Blood Institute , 2020. Iron-Deficiency Anemia. [Online]
Available at: https://www.nhlbi.nih.gov/health-topics/iron-deficiency-anemia
[Accessed 17 02 2020].
Tidy, D. C., 2018. Thalassaemia. [Online]
Available at: https://patient.info/allergies-blood-immune/thalassaemia-leaflet
[Accessed 17 02 2020].
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