Bouchán-Valencia Patricia, Coeto-Barona Georgina, Rosenfeld-Mann Fany, Trueba-Gómez Rocío, Baptista-González Héctor, Rivera-Echegoyén Mariano, Rodríguez-Terán Gerardo, Martínez-Villegas Octavio
Hematología Perinatal, Subdirección de Investigación Clínica, Instituto Nacional de Perinatología "Isidro Espinosa de los Reyes", Ciudad de México, México.
Rev Med Inst Mex Seguro Soc. 2016 Nov-Dec;54(6):793-800.
Hemoglobin D Punjab is the world most common variant hemoglobin D; in Mexico there are reports of isolated cases. Our goal is to present the clinical and molecular study in two families with HbD Punjab. The objective was to submit molecular diagnosis of two families with Hb D Punjab and clinical features.
Family 1: neonate with maternal history of HbS carrier. Father and sister with natural variants for the evaluated mutations, mother, brother and index case were heterozygous for HbD Punjab. Family 2: neonate with positive neonatal screening for detection of abnormal hemoglobins. Mother and index case were heterozygous for HbD Punjab, homozygous for HFE H63D, and Gilbert's syndrome UGT1A1*28 heterozygous. Father heterozygous for HFE H63D and sister homozygous for such mutation. The study of two families for HbD Punjab, HbS, β-thalassemia, HFE and Gilbert syndrome was performed by real time PCR.
The molecular identification of HbD Punjab is an accessible methodological proposal that can adequately distinguish carriers subjects; through this method two additional cases, one initially identified as HbS.
血红蛋白D旁遮普型是世界上最常见的血红蛋白D变异型；在墨西哥有散发病例的报道。我们的目标是介绍两个血红蛋白D旁遮普型家族的临床和分子研究。目的是对两个血红蛋白D旁遮普型家族进行分子诊断并描述其临床特征。
家族1：新生儿，其母亲有血红蛋白S携带者病史。父亲和姐姐有所评估突变的天然变异，母亲、哥哥和索引病例为血红蛋白D旁遮普型杂合子。家族2：新生儿新生儿筛查血红蛋白异常呈阳性。母亲和索引病例为血红蛋白D旁遮普型杂合子、HFE H63D纯合子以及吉尔伯特综合征UGT1A1*28杂合子。父亲为HFE H63D杂合子，姐姐为该突变纯合子。通过实时PCR对两个家族进行血红蛋白D旁遮普型、血红蛋白S、β地中海贫血、HFE和吉尔伯特综合征的研究。
血红蛋白D旁遮普型的分子鉴定是一种可行的方法，能够充分区分携带者；通过这种方法又发现了两例，其中一例最初被鉴定为血红蛋白S。
