Baruah Aditi, Baruah Mrinal Kumar
1Department of Pediatrics, Assam Medical College, Dibrugarh, Assam India.
Madonna Diagnostic and Research Centre, Dibrugarh, Assam India.
Indian J Hematol Blood Transfus. 2020 Jan;36(1):117-122. doi: 10.1007/s12288-019-01150-5. Epub 2019 Jul 4.
Hb E-Beta thalassemia is a disease with marked clinical diversity. In this study, phenotypic diversity of Hb E-β thalassemia children were analysed by studying the clinical and hematological parameters. This was a cross sectional study done in one and a half year period in the department of Pediatrics of a tertiary care teaching hospital. Participants were 62 Hb E-β thalassemic children of age group 1 month to 18 years coming to the Thalassemia day care centre for blood transfusion. Data collected from history, examination findings and investigation reports were analyzed. M:F ratio was 1.07:1; 71% children were above 5 years of age. 90.3% children were Hindu. In 66.1% children, Hb level was below 5 gm/dl at the time of diagnosis. Mean HbF level was 32.6% ± 11.2. Stunting was seen in 64.5%. Average liver and spleen size were 2.5 and 4.4 cm respectively. Beside pallor, most common clinical findings were splenomegaly (93.5%), facial deformity (87%), dusky skin color (82.5%) and hepatomegaly (75.8%). 1.6% children were mild, 43.5% children were moderate and 54.8% children were of severe type. In our study there was no significant correlation between severity of the disease and HbF level (r = 0.0853, = 0.0509). Age at the time of diagnosis, hemoglobin level at the time of first transfusion, age at receiving first blood transfusion, requirement of blood transfusion, spleen size and growth, are some factors affecting severity of the disease. But severity cannot be assessed by considering only one clinical or hematological parameter but by considering several parameters together.
血红蛋白E-β地中海贫血是一种临床差异显著的疾病。在本研究中，通过研究临床和血液学参数分析了血红蛋白E-β地中海贫血患儿的表型多样性。这是一项在一家三级护理教学医院儿科进行的为期一年半的横断面研究。参与者为62名年龄在1个月至18岁之间的血红蛋白E-β地中海贫血患儿，他们前往地中海贫血日间护理中心进行输血。对从病史、检查结果和调查报告中收集的数据进行了分析。男女性别比为1.07:1；71%的儿童年龄在5岁以上。90.3%的儿童为印度教徒。66.1%的儿童在诊断时血红蛋白水平低于5克/分升。平均血红蛋白F水平为32.6%±11.2。64.5%的儿童有发育迟缓。肝脏和脾脏的平均大小分别为2.5厘米和4.4厘米。除了面色苍白外，最常见的临床表现是脾肿大（93.5%）、面部畸形（87%）、皮肤暗沉（82.5%）和肝肿大（75.8%）。1.6%的儿童为轻度，43.5%的儿童为中度，54.8%的儿童为重度。在我们的研究中，疾病严重程度与血红蛋白F水平之间无显著相关性（r = 0.0853，P = 0.0509）。诊断时的年龄、首次输血时的血红蛋白水平、首次接受输血的年龄、输血需求、脾脏大小和生长情况等是影响疾病严重程度的一些因素。但不能仅通过考虑一个临床或血液学参数来评估严重程度，而应综合考虑多个参数。
