title: Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.
abstract: A microcytic hypochromic anemic state was observed in an 8-year old Black female of Surinam origin during pre-operative Hb S [beta6(A3)Glu-->Val] screening. Her high zinc protoporphyrin (ZPP) level suggested a chronic iron depletion but, in contrast, the high red blood cell (RBC) count (5.85 x 10(12)/L) was indicative of a possible coexisting thalassemia. No abnormal hemoglobin (Hb) bands were present on high performance liquid chromatography (HPLC) or alkaline electrophoresis and the Hb A2 level was normal. Break point polymerase chain reaction (PCR) failed to reveal any of the common alpha-thalassemia (thal) mutations but selective DNA sequencing of both alpha-globin genes disclosed a TGC-->AGC transversion at codon 104 of the alpha1 gene. Cystine at codon 104 is involved in alpha/beta globin contact and has been described to be a critical amino acid of the alpha2 chain when substituted by a tyrosine (Hb Sallanches), inducing Hb H (beta4) disease in the homozygous state. Our heterozygous patient had a moderate anemia of 12.2 g/dL and a borderline haptoglobin suggesting some degree of hemolysis.
authors.affiliation: The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Lieke
authors.initials: L
authors.lastname: Rozendaal
authors.forename: Nico A
authors.initials: NA
authors.lastname: Blom
authors.forename: Shirley
authors.initials: S
authors.lastname: Lo-A-Njoe
authors.forename: Nicole
authors.initials: N
authors.lastname: Akkerman
authors.forename: Sandra
authors.initials: S
authors.lastname: Arkestijn
authors.forename: Peter
authors.initials: P
authors.lastname: Van Delft
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D000747:Anemia, Hypochromic / Q000150:complications / Q000235:genetics*; D002648:Child; D003545:Cysteine / Q000235:genetics; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D012694:Serine / Q000235:genetics; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C506402:hemoglobin Oegstgeest; D012694:Serine; D003545:Cysteine