title: Hb TAYBE: clinical and morphological findings IN 43 patients.
abstract: Hereditary sequence variants in globin genes are usually silent and are rarer in α-globin chains than β-globin chains. Some may lead to an unstable protein with a hemolytic or thalassemic phenotype. Hb Taybe is an unstable α-chain hemoglobin variant caused by the deletion of a threonine residue at codon 38 or 39 of the α1 globin gene. This deletion results in a structural abnormality that affects the α1 β2 contact and the α1 β1 interface, producing a highly unstable Hb.
  
  
  OBJECTIVE
  We describe the clinical, laboratory, and morphological characteristics of 43 patients with Hb Taybe, sixteen of whom are heterozygous, eight are homozygous, and nineteen are double heterozygous for Hb Taybe and other α-gene mutations or deletions.
  
  
  RESULTS
  The clinical presentation is very variable from a mild hemolytic anemia to the need for red cell transfusion. Morphological characteristics include erythroid hyperplasia, defective hemoglobin production, and dyserythropoietic features. On electron microscopy dyserythropoiesis and cytoplasmic precipitation of globin compatible optical dense material is seen.
  
  
  CONCLUSIONS
  This is the largest report of Hb Taybe patients. Previous reported cohorts are not related to these cases. We conclude that patients carrying Hb Taybe have a unique hematological and clinical phenotype distinct from other hemoglobinopathies and from congenital dyserythropoietic anemia.
authors.affiliation: Pediatric Hematology Unit, Emek Medical Center, Afula, Israel.|The Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
authors.forename: Ariel
authors.initials: A
authors.lastname: Koren
authors.affiliation: Pediatric Hematology Unit, Emek Medical Center, Afula, Israel.|The Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
authors.forename: Carina
authors.initials: C
authors.lastname: Levin
authors.affiliation: Hematology Laboratory, Emek Medical Center, Afula, Israel.
authors.forename: Luci
authors.initials: L
authors.lastname: Zalman
authors.affiliation: Hematology Laboratory, Emek Medical Center, Afula, Israel.
authors.forename: Haya
authors.initials: H
authors.lastname: Palmor
authors.affiliation: Hematology Division, Hadassah Medical Center, Jerusalem, Israel.
authors.forename: Dvora
authors.initials: D
authors.lastname: Filon
authors.affiliation: Hematology Department, Emek Medical Center, Afula, Israel.
authors.forename: Evgeny
authors.initials: E
authors.lastname: Chubar
authors.affiliation: Efrati Research Laboratory for Blood Cells and Cytology, Kaplan Medical Center, Rehovot, Israel.
authors.forename: Peretz
authors.initials: P
authors.lastname: Resnitzky
authors.affiliation: The Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.|Hematology Laboratory, Emek Medical Center, Afula, Israel.|Hematology Department, Emek Medical Center, Afula, Israel.
authors.forename: Michael
authors.initials: M
authors.lastname: Bennett
mesh_terms: D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D003062:Codon; D003241:Consanguinity; D004909:Erythrocyte Indices; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C112848:hemoglobin Taybe
keywords: Hb Taybe; thalassemia; α-globin