Douna Varvara, Papassotiriou Ioannis, Stamoulakatou Alexandra, Metaxotou-Mavrommati Anna, Kanavakis Emmanuel, Traeger-Synodinos Joanne
Hematology Laboratory, P. and A. Kyriakou Children's Hospital, Athens, Greece.
Hemoglobin. 2008;32(6):592-5. doi: 10.1080/03630260802507964.
Hb Setif is a relatively rare, mildly unstable alpha2-globin hemoglobin (Hb) variant first described in an Algerian family, and subsequently in various populations of the Mediterranean region and the Middle East. Hb Agrinio is a highly unstable variant, classified as a nondeletional alpha-thalassemia (alpha-thal) mutation, which, to date, has only been described in Greece and Cyprus. We report here the clinical and hematological findings in a case of Greek origin, who, following DNA analysis, was characterized with the unusual interaction of the Hb Setif alpha2-globin gene variant at codon 94 variant, in trans to Hb Agrinio, an alpha2-globin gene variant at codon 29. The compound heterozygote proband had only mild anemia with no transfusion requirements and with normal growth and development. We also report the laboratory findings in members of his family, highlighting diagnostic difficulties in the absence of molecular analysis.
血红蛋白塞蒂夫是一种相对罕见、轻度不稳定的α2-珠蛋白血红蛋白（Hb）变异体，最初在一个阿尔及利亚家庭中被描述，随后在中东和地中海地区的不同人群中也有发现。血红蛋白阿格里尼奥是一种高度不稳定的变异体，被归类为非缺失型α地中海贫血（α-地贫）突变，迄今为止，仅在希腊和塞浦路斯被描述过。我们在此报告了一例希腊裔患者的临床和血液学检查结果，经DNA分析，该患者具有不寻常的相互作用，即位于密码子94的血红蛋白塞蒂夫α2-珠蛋白基因突变体与位于密码子29的α2-珠蛋白基因突变体血红蛋白阿格里尼奥呈反式排列。该复合杂合子先证者仅有轻度贫血，无需输血，生长发育正常。我们还报告了其家庭成员的实验室检查结果，强调了在缺乏分子分析的情况下诊断的困难。
