The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival.
The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival.
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DOI：
10.1371/journal.pone.0100516
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Wonkam A
中科院分区：
文献类型：
--
作者：
Rumaney MB;Ngo Bitoungui VJ;Vorster AA;Ramesar R;Kengne AP;Ngogang J;Wonkam A
据报道，α-地中海贫血的共同遗传与喀麦隆镰状细胞贫血（SCA）患者的发病年龄延迟有关。本研究旨在探讨α-地中海贫血、血液学指标与这些患者临床事件之间的相关性。我们研究了161名爱沙尼亚SCA患者和103名对照（HbAA为59.1%），中位年龄分别为17.5岁和23岁。用RFLP-PCR确定SCA基因型，并描述HBB样基因簇中的单倍型。采用多重Gap-PCR检测3.7kb α珠蛋白基因缺失。SNaPshot PCR、毛细管电泳和循环测序用于已知影响HbF水平的BCL 11 A、HMIP 1/2、OR 51 B5/6和HBG基因座中的10个SNP的基因分型。采用校正年龄、性别和SNPs基因型的广义线性回归模型研究α-地中海贫血对临床和血液学指标的影响。血管闭塞性疼痛危象和住院的中位发生率分别为每年2次和1次。8例病例（7.4%）报告了卒中。贝宁单倍型是最普遍的（66.3%; n = 208条染色体）。 在患者中，37.3%（n = 60）具有至少一个3.7kb缺失，而在HbAA对照中为10.9%（n=6）（p<0.001）。 在患者中，中位RBC计数随着3.7 kb缺失的数量而增加[2.6、3.0和3.4百万/dl，无、1和2个缺失（p = 0.01）]。 中位MCV随着3.7 kb缺失的数量[86、80和68 fl，无、1和2个缺失（p<0.0001）]以及中位WBC计数[13.2、10.5和9.8×109/L（p<0.0001）]而降低。α-地中海贫血的共同遗传与较低的就诊率相关（p = 0.038）。 α-地中海贫血与SCA的共同遗传与该组患者血液学指标改善、就诊率降低有关。这可能会提高他们的生存率，并解释患者中α-地中海贫血的比例高于对照组。
Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A, HMIP1/2, OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%). Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes). Among patients, 37.3% (n = 60) had at least one 3.7 kb deletion, compared to 10.9% (n = 6) among HbAA controls (p<0.001). Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01)]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001)], as well as median WBC counts [13.2, 10.5 and 9.8×109/L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038). The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the higher proportion of α-thalassemia among patients than controls.
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影响因子：
1.8
作者：
Mouélé, R;Pambou, O;Galactéros, F
通讯作者：
Galactéros, F
影响因子：
1.2
作者：
Alsultan, Abdulrahman;Aleem, Aamer;Al-Momen, AbdelKareem M.
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DOI：
10.1016/j.trstmh.2011.09.002
发表时间：
2012-01-01
影响因子：
2.2
作者：
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通讯作者：
Mockenhaupt, Frank P.
影响因子：
10.1
作者：
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