First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations.
This report describes four unrelated Greek patients (one child and three adults) who all had an atypical thalassemia intermedia phenotype, characterized by chronic moderate anemia with mild hemolysis in some cases, and the absence of abnormal hemoglobin (Hb) fractions. DNA analysis identified the inheritance of common alpha(+)-thalassemia (alpha(+)-thal) mutations in trans to an in-frame 3 bp deletion at codons 38/39 (-ACC) on the alpha1-globin gene, previously described as Hb Taybe. Hematological findings in the parents of three of the Hb Taybe carrier cases, together with a fourth unrelated carrier, are also presented. These cases represent the first observation of Hb Taybe in the Greek population, as to date, it has only been observed in Israeli-Arab families. With the exception of one patient and his mother who both originate from Corfu, all our cases come from the Greek island of Crete.
Douna
Varvara
V
Hematology Laboratory, P and A Kyriakou Children's Hospital, Athens, Greece.
Liapi
Dimitra
D
Kampourakis
Dimitrios
D
Repapinou
Zoe
Z
Papassotiriou
Ioannis
I
Stamoulakatou
Alexandra
A
Poziopoulos
Christos
C
Kanavakis
Emmanuel
E
Traeger-Synodinos
Joanne
J
D000328:Adult; D002648:Child; D004908:Erythrocyte Inclusions; D005260:Female; D005838:Genotype; D006115:Greece; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007565:Jaundice; D008297:Male; D009154:Mutation; D010641:Phenotype; D017701:Reticulocyte Count; D013163:Splenomegaly; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
D006455:Hemoglobins, Abnormal; C112848:hemoglobin Taybe