Hydrops fetalis associated with homozygosity for hemoglobin Taybe (alpha 38/39 THR deletion) in newborn triplets.
Hemoglobin Taybe is an unstable alpha-chain hemoglobin variant caused by a deletion of a threonine residue at codon 38 or 39 of the alpha-1 globin chain. We describe preterm infant triplets born with hydrops fetalis and anemia who were found by DNA analysis to be homozygous for hemoglobin Taybe. All three infants developed intrauterine hemolytic anemia, which subsequently led to hydrops fetalis. To the best of our knowledge, this is the first description of hydrops fetalis associated with this hemoglobinopathy. We suggest that hemoglobin Taybe be considered in the differential diagnosis of hydrops fetalis and that known affected fetuses be carefully followed both antenatally and postnatally.
Arnon
Shmuel
S
Neonatal Department, Sapir Medical Center, Kfar Saba, Israel.
Tamary
Hannah
H
Dgany
Orly
O
Litmanovitz
Ita
I
Regev
Rivka
R
Bauer
Sofia
S
Dolfin
Tzipora
T
Yacobovich
Joanne
J
Wolach
Baruch
B
Jaber
Lutfi
L
D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics; D003241:Consanguinity; D004247:DNA / Q000097:blood; D017707:Erythrocyte Transfusion; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D017353:Gene Deletion; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D007234:Infant, Premature; D015931:Intensive Care, Neonatal; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D014310:Triplets
D006455:Hemoglobins, Abnormal; C112848:hemoglobin Taybe; D005914:Globins; D004247:DNA