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Brief Reports Indian Pediatrics 2002; 39:574-577 |
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Congenital Hemolytic Anemia in Bangladesh: Types and Clinical Manifestations |
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Shahana Akhter Rahman
Congenital hemolytic anemia is a common disease among children, which results mainly from membrane defects, enzyme defects and hemoglobin defects. Again, hemoglobin defects may be due to qualitative (Hemoglobinopathies) and quantitative (Thalassemia syndromes) abnormalities(1-3). There is gross geographical and racial variation in the different genes like b or a genes or different hemoglobinopathy genes like Hb-E, Hb-C, Hb-S, etc.(3). Variability of clinical presentation depends on type of hemolytic anemia to some extent(4-6). Not much data is available on congenital hemolytic anemia in Bangladesh. This study was conducted to determine the types of congenital hemolytic anemia prevalent in Bangladesh and also to evaluate the clinical profile of the disease.Subjects and Methods Data was collected for this cross-sectional study during the period of July 1996-December 1996. Cases were selected from Thalassaemia Society, Dhaka and Children OPD, BSMMU, Dhaka. One hundred and twenty six cases diagnosed as congenital hemolytic anemia were enrolled in the study. A questionnaire was prepared by the authors and pre-tested for collection of data. After taking consent from the parents, data were collected, which included: age, sex, age at presentation, age at diagnosis and clinical symptoms at presentation. A thorough physical examination was done in each patient. Majority of the patients’ diagnoses were confirmed by Hb-electrophoresis. For the patients, who did not have any confirmed diagnosis, peripheral blood film, reticulocyte count and Coomb’s test was done. Osmotic fragility test was done for suspected congenital spherocytosis cases. Subsequently, hemoglobin-electrophoresis was also done. Hemoglobin estimation was done for each of the 126 patients. Results The sex ratio of cases was M : F = 65 : 61. Ages ranged from 14 months to 12 years with a mean age of 7.5 years. Thirty per cent patients presented with their initial symptoms between the ages of 2-5 years folowed by 28%, 22% and 20% who presented between the ages of 5-8 years, 1-2 years and <1 year, respectively. On the other hand majority of the patients (38%) were diagnosed between 5-8 years followed by 26%, 15%, 13% and 8% diagnosed between the ages of 2-5 years, >8 years, 1-2 years and <1 year, respectively. This study found that 67% of 126 cases had HbE- b Thalassemia and 29% had b-Thalassemia major or intermedia (Table I). Hemoglobin electrophoresis findings showed that HbE-b Thalassemia patients had 40% to 80% of HbE, 5%-35% of HbF and 0%-30% of HbA. Thalassemia patients showed two patterns of hemoglobin electrophoresis findings. In one group, 19 (53%) patients had 95 - 98% HbF and 2 - 5% HbA2. Thalassemia patients included both the b Thalassemia major and b-Thalassemia intermedia. For 2.4% patients, we could not reach a confirmed diagnosis. Another 1.6% patients had congeni-tal spherocytosis. Congenital spherocytosis cases were diagnosed from the blood film and increased osmotic fragility of red blood cells.TableI- Type of Congenital Hemolytic Anemia (n=126)
From Table II, it is evident that in the highest
number of patients (78%) clinical presentation was progressive pallor.
Physical examination showed that all cases had severe anemia. Their
hemoglobin level was below 7 g/dl. All of them also had hepatomegaly and
98% had splenomegaly (2% patients had previous splenectomy). Facial
dysmorphism and jaundice was also very common. Majority of the patients
(84%) had growth retardation. Their weight for age was below 3rd centile.
Weight for age for the rest 16% patients was in between 3rd and 10th
centiles. Table II- Clinical Symptoms at Presentation and Physical findings on Examination (n=126)
* Symptoms and physical findings sometimes included more than one ** Three patients had previous splenectomy Discussion Among Thalassemias, b-Thalassemia gene has a widespread prevalence extending from Mediterranean zone, Middle East, Indian sub-continent including Bengal and parts of Southeast Asia(3). Several demographic studies have documented the remarkably high gene frequency of Hb-E, particularly in eastern part of India including Bengal, Burma and Southeast Asia(3,4,7,8). So, the interaction of Hb-E and b-Thalassemia, HbE-b-Thalassemia is the most important type of congenital hemolytic anemia in this region. This study found that 67% of the congenital hemolytic anemia cases were HbE-b-Thalassemia which is consistent with other studies where HbE-b-Thalassemia is reported as the commonest form of Thalassemias in the neighboring and other southeast Asian countries(4,5,9,10). In 2.4% cases, a definitive diagnosis could not be reached. This failure can be explained by the facts that all the required investigations like enzyme assay, etc. could not be done due to logistic constraints. Splenectomy with proper prophylaxis was advised to the congenital spherocytosis cases found in 1.6% of cases.Clinical presentation of congenital hemolytic anemia might show a variable degree of expression(5,6). This study also found many variations in the clinical expression of disease. There was gross variation in the presenting age as well. There was a big gap between the presentation and the diagnosis of the patients. The reason behind this late diagnosis may be late referral of patients to pediatricians or hematologists. This might be a reflection of less awareness or less alterness of the people and general physicians about the disease. In this series, patients’ clinical complaints at onset also varied to some extent. Majority of the cases presented with progressive pallor (78%). Presenting complaints at the onset of the disease in this study matches with those of earlier documentation(3,5). Physical findings of the patients were also consistent with another report(3). Severe anemia (<7 g/dl) and hepatosplenomegaly were found in all the cases. Growth deficiency found in the vast majority of cases (84%) was also consistent with another report(4). This study population included patients, majority of whom received bare minimum or very compromised treatment. It may be due to these reasons that all patients in this series had severe pallor, hepatosplenomegaly and majority of the patients (93%) had facial dysmorphism and growth retardation (84%) as well. In conclusion, HbE- b-Thalassemia is the commonest encountered congenital hemolytic anemia in Bangladesh. Severe pallor, hepato-splenomegaly and facial dysmorphism are almost univeral reflecting gross inadequate management of the patients.Contributors: Both the authors were responsible for designing the study, analyzing the data and drafting the manuscript. Both of them will act as guarantors for the paper.Funding: None. Competing interests: None stated.
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