Afzal Hasnain, Umair Syed Farrukh
Medical Intensive Care Unit, Patel Hospital, Karachi.
J Pak Med Assoc. 2016 Mar;66(3):348-50.
Haemoglobin-D, Los Angeles or Haemoglobin D-Punjab is not a rare variant of haemoglobin worldwide especially in Punjab, North western India, and South Asian continent. It can be inherited rarely as homozygous causing no symptoms or heterozygous with Haemoglobin A, commonly not related to clinical symptomatology. However, these variants can co-exist rarely with other haemoglobinopathies such as thalassemia or haemoglobin-S. We describe the case of doubly heterozygous Hb-SD Punjab in a 8 year old girl who presented with ischaemic stroke. Before this case, only one case has been reported but it was with reversible hyperbilirubinaemia in Hb-SD from Rawalpindi, Pakistan. This case images the propensity for occurrence of rare phenotype within our population and underlines the importance of genotyping to avoid erroneous management and poor counseling hence preventing life altering complications which our case developed.
血红蛋白D-洛杉矶型或血红蛋白D-旁遮普型并非全球罕见的血红蛋白变异体,在旁遮普邦、印度西北部和南亚大陆尤为常见。它很少以纯合子形式遗传,不产生症状,或与血红蛋白A呈杂合子状态,通常与临床症状无关。然而,这些变异体很少会与其他血红蛋白病如地中海贫血或血红蛋白S同时存在。我们描述了一名8岁患有缺血性中风的双杂合子血红蛋白S-D旁遮普型女孩的病例。在此病例之前,仅报道过一例,但该病例是来自巴基斯坦拉瓦尔品第的血红蛋白S-D型伴可逆性高胆红素血症。该病例反映了我们人群中罕见表型出现的倾向,并强调了基因分型的重要性,以避免错误的治疗和不当的咨询,从而预防我们的病例所出现的改变生活的并发症。