Gupta R B, Tiwary R S, Pande P L, Kutlar F, Oner C, Oner R, Huisman T H
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Hemoglobin. 1991;15(5):441-58. doi: 10.3109/03630269108998864.
We have investigated the frequencies and types of alpha-thal, beta-thal, and Hb variants among nearly 200 inhabitants of villages in the Mandla and Jabalpur districts of Madhya Pradesh in Central India. Over 85% were tribals of the Gond group. alpha-Thal, as -alpha 3.7/and -alpha 4.2/, and the nondeletional Koya Dora mutation were present at the combined frequency of 0.54. There were indications for the presence of other nondeletional types of alpha-thal. alpha-Globin gene triplications were not observed. Four of the six beta-thal alleles observed were in the tribal groups; two (G----C at codon 30 and G----A at IVS-I-1) were found for the first time. The simultaneous presence of an alpha-thal (-alpha/alpha alpha or -alpha/-alpha) greatly improved the clinical and hematological condition of the patients with Hb S-beta(+)-thal (IVS-I-5; G----C). The lower frequency of alpha-thal among the beta-thal heterozygotes (f = 0.32) may indicate that some of the beta-thal alleles in the tribal populations originated from an outside source. Forty-one subjects had SS; all but one had beta S with haplotype #31, while one chromosome had haplotype #17. The presence of an alpha-thal-2 (f = 0.53) in the SS patients did not affect hematological data. The Hb F levels varied between 7.5% and 42.5% with high G gamma values. No difference in Hb F level between males and females was observed. Lower Hb F levels were present in 10 SS patients with an alpha-thal-2 homozygosity (average 16% versus 23.5% for eight SS patients with alpha alpha/alpha alpha) suggesting a decreased formation of alpha gamma dimers in severe alpha chain deficiency. Several younger SS patients (less than 10 years) also had high Hb F levels (32-42%). Variations in the sequence at -530 of the beta-globin gene; i.e. in the so-called silencer sequence, were present in all beta S chromosomes with haplotype #31, but were not considered important for understanding the variability in the Hb F level. gamma-Globin gene deletions (gamma-thal) and triplications were not observed.
我们对印度中部中央邦曼德拉和贾巴尔普尔地区近200名村民中的α地中海贫血、β地中海贫血和血红蛋白（Hb）变异体的频率及类型进行了调查。超过85%为贡德族部落居民。α地中海贫血（如-α3.7/和-α4.2/）以及非缺失型科亚多拉突变的合并频率为0.54。有迹象表明存在其他非缺失型α地中海贫血。未观察到α珠蛋白基因三倍体。观察到的6个β地中海贫血等位基因中有4个存在于部落群体中；其中两个（密码子30处的G→C和IVS-1-1处的G→A）是首次发现。α地中海贫血（-α/αα或-α/-α）的同时存在极大地改善了Hb S-β（+）-地中海贫血（IVS-1-5；G→C）患者的临床和血液学状况。β地中海贫血杂合子中α地中海贫血的频率较低（f = 0.32），这可能表明部落人群中的一些β地中海贫血等位基因来源于外部。41名受试者为镰状细胞贫血（SS）；除1人外，所有患者的βS均与单倍型#31相关，而其中一条染色体具有单倍型#17。SS患者中α地中海贫血-2（f = 0.53）的存在并未影响血液学数据。Hb F水平在7.5%至42.5%之间变化，Gγ值较高。未观察到男性和女性之间Hb F水平的差异。10名α地中海贫血-2纯合子的SS患者Hb F水平较低（平均为16%，而8名αα/αα的SS患者为23.5%），这表明在严重α链缺乏时αγ二聚体的形成减少。几名较年轻的SS患者（小于10岁）Hb F水平也较高（32%-42%）。β珠蛋白基因-530处的序列变异，即在所谓的沉默子序列中，存在于所有具有单倍型#31的βS染色体中，但对于理解Hb F水平的变异性而言并不重要。未观察到γ珠蛋白基因缺失（γ地中海贫血）和三倍体。
