Double heterozygosity for Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees-thalassemia mutations manifests as a thalassemia trait.
An extended family with three individuals affected by two different forms of double heterozygosity for beta-thalassemia and Hb New York is reported. Double heterozygosity of Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees codon 17 was detected in a fetus following prenatal screening for thalassemia. The father and a paternal aunt were also found to be heterozygous for Hb New York and beta degrees IVSII-654. Both adults had clinical and hematological features consistent with beta-thalassemia trait. The affected child was followed up after birth and manifested the typical course of a thalassemia trait, with no signs of organomegaly or overt hemolysis. Observations strongly suggest that double heterozygosity of Hb New York and beta degrees thalassemia has mild, if any, clinical symptoms, and is not an indication of therapeutic abortion when detected antenatally.
Lee
Anselm C W
AC
Department of Paediatrics & Adolescent Medicine, Tuen Mun Hospital, Hong Kong. anselm.cw.lee@gmail.com
Ma
Edmond S K
ES
Chan
Amy Y Y
AY
Szeto
S C
SC
Chan
L C
LC
D000328:Adult; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D040641:Quantitative Trait Loci / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C032181:hemoglobin New York