Clinico-epidemiological profile of thalassemia patients in a tertiary care center

Abstract

Introduction: Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. There are two main types, alpha thalassemia, and beta-thalassemia. Beta Thalassemia Major (also called Cooley's Anemia) is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. There is absent or decreased production of normal hemoglobin, resulting in microcytic anemia of varying degrees. The thalassemias have a distribution concomitant with areas where P. falciparum malaria is common. The alpha thalassemias are concentrated in Southeast Asia, Malaysia, and southern China. The beta thalassemias are seen primarily in the areas surrounding the Mediterranean Sea, Africa, and Southeast Asia. Proper treatment includes routine blood transfusions and other therapies which can lead to iron overload and contraction of infections such as HIV, HCV, and HBV shortening the life span of patients. On the other hand, inadequate transfusions may lead to severe anemia and debility. Material and Methods: This retrospective record-based cross-sectional study was conducted in S.N. Medical College, Agra. Results: In our tertiary center, we have 103 registered patients of thalassemia, in which 44 are females and 59 are males. Out of the 103 thalassemia cases, 95 (92.2%) belonged to beta-thalassemia major, 4(3.8%) of betathalassemia intermediate, and 1 (0.9%) of beta-thalassemia minor category. Fever was the most common presenting symptom. Pallor and hepatomegaly were the most common signs among cases. Conclusion: Hemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. The data on the prevalence of β-thalassemias and other hemoglobinopathies in different caste/ethnic groups of India is scarce.

Diagnostic utility of bone marrow aspiration in bicytopenia

“…Niazi et al showed a male preponderance with the ratio being 1.5:1 and Singh et al showed male : female ratio of 1.4:1 which was in concordance with our study. [8][9][10] In contrast to our study, Athar et al showed female predominance with male: female ratio of 1:2. 6 Majority of patients presented with weakness (82%) and fatigue (64%).…”

“…The results corresponds to the study by Singh et al which also showed similar picture. 10 However study conducted in central India by Nigam et al and those by Singh et al, Anjum et al also showed predominantly megaloblastic marrow. 1,13,14 In the present study, 32 (64%) of 50 cases showed non malignant cases of haematological disorders and 18 (36%) case showed haematological malignancies.…”

“…Singh et al in their study, showed non-malignant haematological disorders in 53.6% and haematological malignancies in 46.4% of cases, which is quite similar to our findings. 10 The bone marrow examination performed on children in the present study was eleven cases. Majority of them presented with anaemia and thrombocytopenia, seen in 07 (63.63%) out of eleven cases, while 04 (36.36%) cases showed thrombocytopenia with leukopenia.…”

“…Singh et al in their study showed the most common presenting complain as pallor (87.5%), followed by body weakness and headache (47.9%), lastly by fever (37.9%). 10 These presenting complaints usually vary from person to person as the haematological disorders are wider and have different pathogenesis which is also influenced by the person's genetic makeup and individual immunity.…”