Homozygous alpha-thalassemia-1 presenting in a fetus without anemia.
A fetus at risk for alpha-thalassemia presented with cardiomegaly without evidence of anemia. Invasive testing demonstrated the diagnosis of homozygous alpha-thalassemia-1 with a normal-range hemoglobin (Hb) level. We suggest that in the prenatal detection of homozygous alpha-thalassemia-1 by sonography, the diagnosis should always be confirmed with definitive methods such as fetal cord blood Hb analyses. This is important for genetic counseling and treatment for the affected fetus.
Yang
Yu
Y
Department of Obstetrics and Gynecology, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, China.
Li
Dong-Zhi
DZ
D000328:Adult; D000740:Anemia; D006332:Cardiomegaly / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006454:Hemoglobins / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D006454:Hemoglobins