title: Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia.
abstract: We report a case of survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia. The occurrence of these malformations is consistent with the postulation that intra-uterine hypoxia due to the presence of hemoglobin Bart's (Hb Bart's) is the causative factor for the development of these malformations. There were two pitfalls in diagnosis: normal spun hematocrit level despite a low hemoglobin level and absence of hydropic features. Our case illustrated that nitric oxide and high frequency ventilation were ineffective in ameliorating persistent pulmonary hypertension of newborn until exchange transfusion was done replacing Hb Bart's with normal hemoglobin.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chun, NT, Hong Kong. leesyr@netvigator.com
authors.forename: Shing Yan Robert
authors.initials: SY
authors.lastname: Lee
authors.forename: Chi Keung
authors.initials: CK
authors.lastname: Li
authors.forename: Siu Cheung
authors.initials: SC
authors.lastname: Ling
authors.forename: Yiu Keung
authors.initials: YK
authors.lastname: Shiu
mesh_terms: D005078:Exchange Transfusion, Whole Blood; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities*; D006400:Hematocrit; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000009:adverse effects; D006612:High-Frequency Ventilation; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications*; D007583:Jejunum / Q000002:abnormalities*; D009569:Nitric Oxide / Q000008:administration & dosage; D010547:Persistent Fetal Circulation Syndrome / Q000150:complications / Q000628:therapy; D011247:Pregnancy; D050277:Toe Phalanges / Q000002:abnormalities*; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D009569:Nitric Oxide; C030448:hemoglobin Bart's