Samarah Fekri, Ayesh Suhail, Athanasiou Miranda, Christakis John, Vavatsi Norma
Department of Biochemistry, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Hemoglobin. 2009;33(2):143-9. doi: 10.1080/03630260902861873.
Sickle cell disease is an inherited autosomal recessive disorder of the beta-globin chain. In Palestine it is accompanied by a low level of Hb F (mean 5.14%) and a severe clinical presentation. In this study, 59 Palestinian patients, homozygotes for Hb S were studied for their haplotype background. Eight polymorphic sites in the beta-globin gene cluster were examined. The Benin haplotype was predominant with a frequency of 88.1%, followed by a frequency of 5.1% for the Bantu haplotype. One chromosome was found to carry the Cameroon haplotype (0.85%). Three atypical haplotypes were also found (5.95%). Heterogeneity was observed in Hb F production, ranging between 1.5 and 17.0%, whereas the (G)gamma ratio was homogeneous among all haplotypes with a normal amount of about 41%. Our results are in agreement with previous reports of the Benin haplotype origin in the Mediterranean.
镰状细胞病是一种β珠蛋白链的常染色体隐性遗传疾病。在巴勒斯坦，它伴随着低水平的胎儿血红蛋白（平均5.14%）和严重的临床表现。在本研究中，对59名纯合子血红蛋白S的巴勒斯坦患者进行了单倍型背景研究。检测了β珠蛋白基因簇中的8个多态性位点。贝宁单倍型占主导，频率为88.1%，其次是班图单倍型，频率为5.1%。发现一条染色体携带喀麦隆单倍型（0.85%）。还发现了三种非典型单倍型（5.95%）。观察到胎儿血红蛋白产生存在异质性，范围在1.5%至17.0%之间，而（G）γ比值在所有单倍型中是均匀的，正常量约为41%。我们的结果与先前关于地中海地区贝宁单倍型起源的报道一致。
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