Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy.

Abstract

Hemoglobin (Hb) H/Constant Spring disease is a common nondeletional Hb H disease, typically causing a more severe phenotype than the deletional Hb H disease counterpart. Hb Tak, resulting from a dinucleotide insertion (+AC) at codon 146 of beta-globin gene, has an increased oxygen affinity and usually presents with polycythemia. We studied a case of a 4-year-old Thai boy with a severe, early-onset anemia. To our knowledge, he is the first reported patient with Hb H/Constant Spring disease and heterozygous Hb Tak. Trio-whole-exome sequencing does not identify other genetic variants that may contribute to the severity of anemia. The observation suggests that coinherited Hb H/Constant Spring and heterozygous Hb Tak lead to severe hemolytic anemia.

• Authors: Chane Choed-Amphai, Arunee Phusua, Chupong Ittiwut, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 43 Issue 5 Pg. e723-e726 (07 01 2021) ISSN: 1536-3678 [Electronic] United States
• PMID: 32925409 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Tak
• Hemoglobin H

Topics

• Anemia, Hemolytic (genetics)
• Child, Preschool
• Hemoglobin H (genetics)
• Hemoglobinopathies (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Male