GENDER AND HAPLOTYPE EFFECTS UPON HEMATOLOGICAL MANIFESTATIONS OF ADULT SICKLE-CELL-ANEMIA
GENDER AND HAPLOTYPE EFFECTS UPON HEMATOLOGICAL MANIFESTATIONS OF ADULT SICKLE-CELL-ANEMIA
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DOI：
10.1002/ajh.2830480307
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发表时间：
1995-03-01
影响因子：
12.8
通讯作者：
RIEDER, RF
中科院分区：
文献类型：
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作者：
STEINBERG, MH;HSU, H;RIEDER, RF
在非洲，β-珠蛋白基因簇单倍型可能与镰状细胞性贫血(SS)受试者Hb F水平的变化有关。这些观察结果在非洲以外的SS中尚未得到最终证实，可能是因为样本量小，单倍型杂合子占主导地位，以及包括性别在内的各种影响，包括性别对Hb F水平的影响。我们研究了384名成年非裔美国SS患者(平均年龄31岁)，并探讨了性别、β-珠蛋白基因簇单倍型和阿尔法地中海贫血与血液学指标和Hb F水平的关系。单倍型和性别均影响Hb-F浓度。在总样本中，女性的Hb F高于男性(8.2%对6.5%)。在35名塞内加尔染色体纯合子或具有塞内加尔/贝宁单倍型的男性中，具有贝宁和班图单倍型的女性的平均Hb F百分比(8.0%)相当于Hb F水平(类似7.5%)。在44名塞内加尔/塞内加尔或塞内加尔/贝宁女性中，Hb F为10.9%，或1.0g/dl，是所有初级分析组中观察到的最高值。初步分析表明，Bantu染色体的存在削弱了Hb F的性别差异，但具有塞内加尔/贝宁单倍型(11.2%)和塞内加尔/Bantu单倍型(8.8%)的女性之间的Hb F差异不具有统计学意义。男性的血红蛋白浓度高于女性，但至少有一条塞内加尔单倍型染色体的受试者，其血红蛋白水平相同。无论单倍型如何，α地中海贫血均可降低MCV、增加Hb浓度、降低网织红细胞数，但在任何组别中均不影响Hb F的水平。我们得出结论：性别和β-珠蛋白基因簇单倍型在调节Hb F和SS成人贫血中具有显著的交互作用，(C)1995 Wiley-Liss，Inc.
In Africa, the beta-globin gene cluster haplotype may be associated with variation of Hb F levels in subjects with sickle cell anemia (SS). These observations have not yet been conclusively confirmed in SS out of Africa, perhaps because of small sample sizes, the predominance of haplotype heterozygotes, and diverse influences, including gender, upon Hb F levels.We studied 384 adult African-American SS patients (mean age, 31 years) and explored the relationship of gender, beta-globin gene cluster haplotype, and alpha thalassemia to hematological values and Hb F levels. Both haplotype and gender influenced Hb F concentration. In the total sample, Hb F was higher in females than in males (8.2 vs. 6.5%). In 35 males who were either homozygous for the Senegal chromosome or had the Senegal/Benin haplotype, the mean percent Hb F (8.0%) was equivalent to the Hb F level in females with Benin and Bantu haplotypes (similar to 7.5%). Both females and males homozygous for the Senegal haplotype chromosome or with the Senegal/Benin combination had a significant increase in Hb F compared to other groups, In 44 Senegal/Senegal or Senegal/Benin females the Hb F was 10.9%, or 1.0 g/dl, the highest value observed in all primary analysis groups, Preliminary analyses suggested that the presence of a Bantu chromosome blunted the gender-associated difference in Hb F, but Hb F differences between females with the Senegal/Benin haplotype (11.2%) and the Senegal/Bantu haplotype (8.8%) were not statistically significant, Hemoglobin concentrations were higher in males than in females except in subjects with at least one Senegal haplotype chromosome, where hemoglobin levels were equal. As excpected, alpha thalassemia reduced the MCV, increased hemoglobin concentration, and lowered reticulocyte counts, regardless of haplotype, Hb F revels were not affected by the presence of alpha thalassemia in any group.We conclude that gender and beta-globin gene cluster haplotype interact significantly in the modulation of Hb F and anemia in adults with SS, (C) 1995 Wiley-Liss, Inc.