Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew-Minneapolis and Hb Hinsdale from Turkey

Abstract

In the present study, the Hb Hinsdale and Hb Andrew-Minneapolis variants are demonstrated for the first time in the Turkish population.

Hemoglobin Andrew‐Minneapolis‐Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β‐thalassemia trait: A diagnostic and management conundrum

“…Hb Andrew-Minneapolis is a high oxygen-binding hemoglobin (Hb) variant first described by Zak et al (1974) and has been reported in approximately 11 families, causing mild-to-moderate erythrocytosis. [2][3][4][5][6][7][8][9][10][11] This variant has also been reported with δβ-thalassemia in one case. 8 The diagnosis is often straightforward, based on screening by Hb-HPLC and/or Hb electrophoresis followed by confirmation by Sanger sequencing of the β-globin gene (HBB).…”

“…8 To the best of our knowledge, none of the previously reported cases of Hb Andrew-Minneapolis had documented hepatosplenomegaly. [2][3][4][5][6][7][8][9][10][11] In light of the splenohepatomegaly, unconjugated hyperbilirubinemia, and mild reticulocytosis, the co-inherited novel missense cis-variant HBB: c.413T>C (p. Val138Ala) [β137] was evaluated further. In-silico analysis using PolyPhen, SIFT, PROVEAN, MutPred, MutationTaster, CADD, M-CAPP, etc.…”

Hb Andrew-Minneapolis Variant in a Turkish Family

“…This variant is inherited in an autosomal dominant manner [ 2 , 3 ]. The first case in Türkiye was published by Aykut et al [ 4 ]. Here we present the Hb Andrew-Minneapolis variant in two siblings whose parents were not alive.…”