Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia

J Matern Fetal Neonatal Med. 2009 Aug;22(8):711-3. doi: 10.1080/14767050902994556.

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.

Publication types

  • Case Reports

MeSH terms

  • Exchange Transfusion, Whole Blood
  • Female
  • Finger Phalanges / abnormalities*
  • Hematocrit
  • Hemoglobins / analysis
  • Hemoglobins, Abnormal / adverse effects
  • High-Frequency Ventilation
  • Homozygote
  • Humans
  • Infant, Newborn
  • Intestinal Atresia / complications*
  • Jejunum / abnormalities*
  • Nitric Oxide / administration & dosage
  • Persistent Fetal Circulation Syndrome / complications
  • Persistent Fetal Circulation Syndrome / therapy
  • Pregnancy
  • Toe Phalanges / abnormalities*
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / therapy*

Substances

  • Hemoglobins
  • Hemoglobins, Abnormal
  • Nitric Oxide
  • hemoglobin Bart's