Anemia and hydrops in a fetus with homozygous hemoglobin constant spring.
Hemoglobin Constant Spring (Hb CS) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the alpha2-globin gene. The compound heterozygosity of alpha-thalassemia and Hb CS (--/alphaCSalpha) results in a Hb H/CS disease which is clinically more severe than deletional Hb H disease. Homozygosity of Hb CS (alphaCSalpha/alphaCSalpha) is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. The authors report 1 case with Hb CS homozygosity who presented with fetal anemia and hydrops. Intrauterine transfusions were given which rendered a favorable outcome. This report demonstrates an unusual and serious in utero complication in a fetus with Hb CS/CS.
Charoenkwan
Pimlak
P
Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. pcharoen@mail.med.cmu.ac.th
Sirichotiyakul
Supatra
S
Chanprapaph
Pharuhas
P
Tongprasert
Fuanglada
F
Taweephol
Rawee
R
Sae-Tung
Rattika
R
Sanguansermsri
Torpong
T
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics / Q000628:therapy; D001803:Blood Transfusion / Q000379:methods; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics / Q000628:therapy; D011247:Pregnancy
D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring