Early onset of fetal hydrops associated with the α-thalassemia - -(THAI) deletion.

Abstract

α-Thalassemia (α-thal) is common in southern China. Homozygosity for the - -(SEA) (Southeast Asian) α-globin gene deletion is the most common cause of the Hb Bart's (γ4) disease. Occasionally, other α(0)-thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's disease. The fetus was a compound heterozygote for the - -(SEA) and - -(THAI) deletions and presented different clinical features from that of traditional Hb Bart's disease with the - -(SEA) deletion in the homozygous state. The early onset of fetal hydrops is attributed to the decreased formation of embryonic Hb Portland (ζ2γ2), which is proposed as a candidate for reactivation in cases of severe α-thal. Our finding may have potentially important implications for clinical decisions in a program using ultrasonography to identify signs of homozygous α(0)-thal.

• Authors: Yu Yang, Dong-Zhi Li
• Journal: Hemoglobin (Hemoglobin) Vol. 38 Issue 6 Pg. 431-4 ( 2014) ISSN: 1532-432X [Electronic] England
• PMID: 25370866 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• alpha-Globins
• hemoglobin Portland

Topics

• Female
• Gene Deletion
• Hemoglobins, Abnormal (genetics)
• Homozygote
• Humans
• Hydrops Fetalis (genetics)
• Male
• Pregnancy
• alpha-Globins (genetics)
• alpha-Thalassemia (genetics)