Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].
Hoyer
James D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
McCormick
Daniel J
DJ
Snow
Karen
K
Lawler
Jack
J
Jadick
Melissa
M
Grageda
Renee
R
Early
James L
JL
Ball
Carol
C
Skarda
Paula
P
Kubik
Kathleen S
KS
Holmes
Michael W
MW
Fairbanks
Virgil F
VF
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D012998:Somalia / Q000208:ethnology; D014481:United States; D015006:Yemen / Q000208:ethnology
D006455:Hemoglobins, Abnormal; C475068:hemoglobin Buffalo; C475067:hemoglobin Hagerstown; C401963:hemoglobin Roubaix; C475069:hemoglobin Wichita; D005914:Globins