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: Shing Yan Robert Lee, Chi Keung Li, Siu Cheung Ling, Yiu Keung Shiu
• Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (J Matern Fetal Neonatal Med) Vol. 22 Issue 8 Pg. 711-3 (Aug 2009) ISSN: 1476-4954 [Electronic] England
• PMID: 19521930 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

• 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, therapy)
• Pregnancy
• Toe Phalanges (abnormalities)
• alpha-Thalassemia (complications, diagnosis, therapy)