Mohan N, Sarkar R
Department of Radiology, University of Texas Health Science Centre, San Antonio 78284-7800.
Indian J Pediatr. 1994 May-Jun;61(3):237-48. doi: 10.1007/BF02752216.
Although rapid technical advances have taken place in the diagnosis of beta-thalassemia, still the hematological factors were found to be suitable screening test in areas like Indian subcontinent where a high prevalence of beta-thalassemia trait was observed. Among various thalassemias reported in Asian Indians, beta-thalassemia account for about 80% and is responsible for very high infantile mortality. Despite this, little is known about the hematological status of beta-thalassemias among this ethnic group which is associated with more than five different predominant beta-globin mutation with high frequency and variable number of rare ones. The present study is the first report of hematological status of beta-thalassemia among this ethnic group particularly from Tamil Nadu, Southern India, who are still practising high degree of consanguinity. In the present study, a total number of 364 beta-thalassemics were investigated. This includes 84 cases of homozygous beta-thalassemias and the remaining 280 were heterozygotes. The hematological factors such as red cell indices, hemoglobin F and hemoglobin A2 were assessed. The results revealed a wide spectrum of hematological variables ranging from severe form as that of Mediterranean thalassemias to very mild form of anemia as that of African Negro population.
尽管β地中海贫血的诊断技术取得了快速进展,但在印度次大陆等观察到β地中海贫血特征高患病率的地区,血液学因素仍被认为是合适的筛查试验。在亚洲印度人报告的各种地中海贫血中,β地中海贫血约占80%,并导致极高的婴儿死亡率。尽管如此,对于这个与五种以上不同的主要β珠蛋白突变高频以及数量不等的罕见突变相关的族群中β地中海贫血的血液学状况知之甚少。本研究是关于这个族群,特别是来自印度南部泰米尔纳德邦、仍保持高度近亲结婚的β地中海贫血血液学状况的首份报告。在本研究中,共调查了364例β地中海贫血患者。其中包括84例纯合子β地中海贫血病例,其余280例为杂合子。评估了红细胞指数、血红蛋白F和血红蛋白A2等血液学因素。结果显示,血液学变量范围广泛,从地中海型地中海贫血的严重形式到非洲黑人人群的非常轻微的贫血形式。