2 DIFFERENT FORMS OF HOMOZYGOUS SICKLE-CELL DISEASE OCCUR IN SAUDI-ARABIA
2 DIFFERENT FORMS OF HOMOZYGOUS SICKLE-CELL DISEASE OCCUR IN SAUDI-ARABIA
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DOI：
10.1111/j.1365-2141.1991.tb08013.x
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发表时间：
1991-09-01
影响因子：
6.5
通讯作者：
SERJEANT, GR
中科院分区：
文献类型：
--
作者：
PADMOS, MA;ROBERTS, GT;SERJEANT, GR
在沙特阿拉伯的血液学，临床和一些纯合子镰状细胞（SS）疾病的分子遗传特征进行了比较，在33例患者从东部省（东部）和30从西南省（西部）。东方患者都有亚洲β珠蛋白单倍型，而西方患者更多变，但主要是贝宁单倍型。东部患者有更多的缺失型α地中海贫血，较高的总血红蛋白和胎儿血红蛋白水平，较低的HbA2，平均细胞体积，网织红细胞和血小板计数。在临床上，东方患者有更大的持续性脾肿大，更正常的身体构造和更大的肩胛下皮肤褶皱厚度，和西方患者有更多的趾炎和急性胸部综合征。疼痛危象和股骨头缺血性坏死是常见的，在两组中发生率相同。东部省的疾病有许多轻度特征，与较高的HbF水平和更常见的α地中海贫血一致，但骨病理学（疼痛危象、股骨头缺血性坏死、骨髓炎）仍然很常见。西部的疾病更严重，与贝宁单倍型一致，表明非洲起源。
Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origin.