同卵和复合杂合子重型β-地中海贫血的伊拉克库尔德人的 A 型地中海贫血共生遗传对表型的影响

Dilan JASIM KHALIL
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引用次数: 0

摘要

背景:同型或复合杂合子β0地中海贫血患者可能表现为重型地中海贫血或中间型地中海贫血。这种表型的变化是不同人群中多种遗传修饰因素的结果。我们的目的是评估伊拉克库尔德人中α-地中海贫血的频率及其对表型的影响。研究方法在杜胡克地中海贫血中心共招募了 125 名同种或复合杂合β0 型地中海贫血患者。他们根据起病年龄和输血频率(重型或中型地中海贫血)进行分类。所有患者都提取了 DNA 并进行了 Gap-PCR 检测,以确定 3 个缺失基因,即-α 3.7、-α 4.2 和 --MED。结果患者的中位年龄为 12 岁(2.0-35 岁),其中男性 63 人,女性 62 人。其中 96 人患有重型地中海贫血,29 人患有中型地中海贫血。最常见的β突变是 IVS-2.1 (G>A)、密码子 44 (-C)、密码子 5 (-CT) 和密码子 8 (-AA)。缺口聚合酶链式反应在 9 名患者(7.2%)中发现了α地中海贫血,其中 8 例为 -α 3.7 /αα,1 例为 -α 4.2/αα,但没有人出现双 α 基因缺失。中型地中海贫血患者的α-地中海贫血发生率为 13.8%,高于重型地中海贫血患者的 5.2%。这一差异在统计学上并不显著(P=0.228)。结论患者的同型或复合杂合子β0地中海贫血症似乎并不明显。这可能是由于α地中海贫血的背景频率较低,主要是由于单个α基因缺失所致。值得进行更多的研究,其中包括更多具有扩展β基因型和其他遗传修饰因子的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
IMPACT OF COINHERITANCE OF A-THALASSEMIA ON PHENOTYPE IN IRAQI KURDS WITH HOMOZYGOUS AND COMPOUND HETEROZYGOUS SEVERE Β -THALASSEMIA
Background: Patients with homozygous or compound heterozygous β0 thalassemia may present either with thalassemia major or intermedia. This phenotypic variability is the consequence of several genetic modifiers in different populations. We aimed to assess the frequency and the impact of coinheritance of α-thalassemia on phenotype in Iraqi Kurds. Methods: A total of 125 patients characterized as homozygous or compound heterozygous β0 thalassemia were recruited in thalassemia center Duhok. They were classified based on age of starting and the frequency of transfusion (thalassemia major or intermedia). All patients had their DNA extracted and Gap-PCR performed to identify 3 deletions namely: ‒α 3.7, ‒α 4.2, and ‒ ‒MED. Results: The patients had a median age of 12 years (Range 2.0-35), with 63 males and 62 females. 96 patient with thalassemia major and 29 with intermedia. The most frequent β-mutations were IVS-2.1 (G>A), Codon 44 (-C), codon 5 (-CT) and codon 8 (-AA). Gap PCR identified α-thalassemia in 9 patients (7.2%), including ‒α 3.7 /αα in 8 cases and ‒α 4.2/αα in one patient, while none had a double α-gene deletions. The frequency of α-thalassemia was higher in thalassemia intermedia at 13.8% compared to 5.2% in major. This difference was statistically insignificant (P=0.228). Conclusions: The patients not appear to be a significant with homozygous or compound heterozygous β0 thalassemia. This may be attributed to low background frequency of α-thalassemia, it being mainly due to a single α-gene deletion. Further studies including more patients with extended β-genotypes and other genetic modifiers may be worthwhile.
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