原发孕妇贫血伴β地中海贫血的伊朗血红蛋白D

A. Ali
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摘要

贫血在包括巴基斯坦在内的发展中国家的女性人群中相当常见。除血红蛋白病外,由于近亲结婚的传统习俗,印度、巴基斯坦和伊朗也经常发生血红蛋白病。旁遮普邦血红蛋白D是血红蛋白D最常见的亚变体之一(55%),它可以作为纯合子或杂合子性状与其他血红蛋白病遗传。尽管旁遮普邦血红蛋白很常见,但另一种类似伊朗血红蛋白D的变体,具有β地中海贫血杂合特征,很少报道。我们报道了一例罕见的伊朗血红蛋白和β地中海贫血的共同遗传病例,该病例发生在一名20多岁的克什米尔裔年轻初产妇身上。她怀孕六个月,被诊断为贫血。她有腹泻病史。经检查,她脸色苍白,轻度黄疸。除轻度脾肿大外,全身检查无明显变化。到目前为止,基底高度在年龄上是正常的。经调查,她患有轻度贫血,并伴有微细胞低色素性血象。血红蛋白电泳显示Hb A2+Hb F+S/D带。伊朗合并血红蛋白D和β地中海贫血的分子研究。她接受了关于他的疾病的咨询,并建议在产后6个月进行随访。
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Haemoglobin D Iran With Beta Thalassemia in A Primigravida With Anaemia
Anaemia is quite common in female population of developing countries including Pakistan. Beside haemoglobinopathies are often seen in India, Pakistan and Iran due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of Haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. Although, Haemoglobin D-Punjab is commonly seen but another variant of HB D like Hb D Iran with heterozygous trait of β thalassemia is rarely reported. We present a rare case of co-inheritance of Haemoglobin D- Iran and β thalassemia in a young primigravida of Kashmiri origin in her twenties. She was six months pregnant and was diagnosed to have anaemia. She had history of diarrhea. On examination, she was pale looking and mildly icteric. Systemic examination was insignificant except for mild splenomegaly. The fundal height was normal for age to date. On investigation, she had mild anaemia with microcytic hypochromic blood picture. Hemoglobin electrophoresis showed a band of Hb A2+Hb F+S/D. Molecular studies of combined Haemoglobin D –Iran and beta thalassemia. She was counseled about his disease and advised follow-up up at 6 months after delivery after delivery.
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