Combined heterozygosity for hemoglobin Pakse, α-thalassemia and for hemoglobin E, β- thalassemia first appearance in Europe.

ABSTRACT: Hemoglobinopathies are among the most common inherited diseases and they are believed to be one of the major etiologic factors contributing to anemia. Thalassemia is characterized by an altered hemoglobin (Hb) chain synthesis and may appear as alpha-(α-)thalassemia and/or beta-(β-)thalassemia. The clinical manifestations of thalassemia may range from asymptomatic to severe, with the potential to ultimately result in death. The search for an underlying cause was prompted by the discovery of an asymptomatic patient of Thai origin with microcytic anemia and no iron deficiency during a routine hematological examination. Genetic sequencing results revealed Hb Paksé, α2 CD 142 [A > T] (HBA2:c.429 A > T) and HbE β2 CD 26 [G > A] (HBB: c.79 G > A). It is essential that the identification and knowl

SUBMITTER: Schnedl WJ 

PROVIDER: S-EPMC12031744 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature