A 23-year-old female presents to her GP with menorrhagia. She has recently moved into the area, so her GP feels it is a good idea to request some blood tests and to take her history. Her GP feels she looks slightly pale so decides to request some blood tests to determine whether she has any degree of anaemia. Her family origin is African, with her mother and father originating from Ghana. Her FBC, blood film and HPLC results are shown below, with normal ranges provided
Introduction
This report will focus on evaluating a case study of a patient’s diagnosis and symptom-related analysis. The report will, therefore, entail the interpretation of data presented in the case study, where relevant parameters involved in carrying out the tests are interrelated and how they attribute to the identified symptoms. The second step in the report will entail the differential diagnosis, where logical interpretation of information will be done to identify the correct answer or recommendations will be done to identify whether further tests are necessary. Finally, the report will end by summarizing the most likely disorder affecting the patient, along with comments on the prognosis and current treatment.
Data interpretation:
From the patient’s blood, the hemoglobin was low (94 g/l) and a hematocrit of 0. 260 L/L. This is an indication of anemia. Also, the results show decreased levels of the Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). This is an indication of microcytic and hypochromic anemia. Looking at the reticulocyte count as well as the red blood cells they seem to be within a normal range. This means an elevation of the reticulocyte’s percentage. There is a small elevation in neutrophils as well as the lymphocytes. On the other hand, the number of eosinophils is declining. A notable low level of ferritin is an indication of the deficiency of iron in anemia. Pale red blood cells, and hypochromic and microcytic anemia can be an outcome of aberrant haemoglobin synthesis.
Differential diagnosis
There are several diseases that can mimic thalassemia, so it is usually critical to carry out a thorough analysis. Some of these diseases may be sickle cell anemia, hemolytic anemia, and erythropoietin deficiency, among others. Therefore, distinguishing the relevant conditions is critical as each has different considerations in the treatment and clinical consequences. The MCV for thalassemia in most cases is <80, and so is for hemolytic anemia, and iron deficiency anemia. When checked for laboratory abnormalities, thalassemia will exhibit a performance lipid chromatography that is abnormally high. In addition, microcytic anemia is present. Overload of iron and also transfusions which are frequent lead to ferritin elevation. Hemolytic anemia on the other hand has low haptoglobin, and there is low ferritin in iron deficiency anemia.
The blood film in the test results presented indicates that there is mild poikilocytosis and anisocytosis. These particular traits illustrate or stipulate that the red blood cells tend to vary based on shape and size, which is often consistent with the general identification of alpha-thalassemia. It is possible to say that the patient’s genetic mutation is one of the attributing factors to her developing the menorrhagia complication. Alpha-thalassemia mostly affects people of African, descent especially, those who come from regions that are prone to malaria infections. Therefore, the GP should consider taking an approach that addresses her condition by diagnosing the problem from the perspective that she is having Alpha-thalassemia, rather than just considering her menorrhagia complication.
By reviewing the test results, it is clear that pale red blood cells, and hypochromic and microcytic anemia, can be an outcome of aberrant haemoglobin synthesis. Iolascon et al., (2009), stipulate that microcytic hypochromic anaemia is a condition that can be an outcome of having an absence of the globin genes, which is a defect in heme-related synthesis. Therefore, this particular type of anemia can be or not be sideroblastic, a trait that reflects the implications of having different gene abnormalities. Red blood cells that have reduced MCV (Mean corpuscular volume) tend to depict a reduced level of haemoglobin synthesis which can be attributed to several causes.
The HPLC results stipulate that there is a significant rise in HbA2, which is a type of haemoglobin that tends to increase in the presence of alpha-thalassemia. According to Khera et al. (2014), HPLC (High-performance liquid chromatography is a practice utilized for accurate diagnosis of thalassemias and hemoglobinopathies. The primary advantage of utilizing HPLC is its excellent resolution, quantification and reproduction of several; abnormal and normal haemoglobin; hence resulting in accurate diagnosis of symptoms associated with thalassemia syndrome. Therefore, it is evident that the test results played a significant role in facilitating the overall diagnosis of the patient’s condition, hence helping the GP identify the relationship between the several symptoms that the patient was experiencing concerning her genetic makeup (putting in mind that she had inherited the condition from one or both of her parents).
Disease biology, prognosis, and treatment,
Alpha-thalassemia is a is a blood disorder that is hereditary, and occurs when there is an absence of the chains of alpha-globin, or when they are deficient. According to Husna and Handayani (2021), the blood that is produced by the body is inadequate. Alpha-thalassemia destroys the RBC leading to anemia. This condition develops if there is a gene abnormality, in one of the genes involved in hemoglobin production. It is hereditary from the parents. If one of the parents has thalassemia, there is a high chance that the child will develop thalassemia minor. The chances are higher is both parents have the disease. Shafique et al. (2021) point out that during the development of embryonic or fetal stage, proteins of γ globin partner with globin α, which later get replaced by the protein globin β. Therefore, the imbalances in the global chain lead to hemolysis and as a result impede erythropoiesis. Depending on the severity of Alpha thalassemia, it can lead to hemolytic anemia (resulting from Betathalassemia) or a condition known as fatal hydrops fetalis.
For previous countries which are non-endemic, the prognosis for the patients is not quite clear. Patients with the disease seem to lead a life that is normal. Some may never even get diagnosed in their lifetime. In its diagnosis, the carrier identification for alpha-thalassemia should include the determination of MCV as well as MCH, and the quantitative analysis of Hb (Vijian et al., 2021). This can be performed through y high-performance liquid chromatography. The absence of typical changes in HbA2 makes it difficult to identify the carriers of alpha-thalassemia, even though microcytosis and hypochromia are present. Bone marrow transplant is the only cure for Thalassemias. Also, gene therapy can be used, however, there has not been any recorded success rate for it.
References
Husna, N. and Handayani, N. S. N. (2021) ‘Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia’, Rep Biochem Mol Biol,10(3),pp.346-353. doi: 10.52547/rbmb.10.3.346. PMID: 34981010; PMCID: PMC8718782.
Shafique, F., Ali, S., Almansouri, T. S. et al. (2021) Thalassemia, a human blood disorder. Brazilian Journal of Biology, 83. e246062. ISSN 1519-6984
Vijian, D,, Wan Ab Rahman, W.S., Ponnuraj, K.T, Zulkafli, Z., Mohd Noor, N. H. (2021) ‘Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques’, Medeni Med J,;36(3),pp. 257-269. doi: 10.5222/MMJ.2021.14603. Epub 2021 Sep 30. PMID: 34915685; PMCID: PMC8565582.
