The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--<sup>CR</sup>) Type Deletion with Hb Constant Spring
6
Issued Date
2024-01-01
Resource Type
ISSN
03630269
eISSN
1532432X
Scopus ID
2-s2.0-85201974356
Journal Title
Hemoglobin
Rights Holder(s)
SCOPUS
Bibliographic Citation
Hemoglobin (2024)
Suggested Citation
Songdej D., Kadegasem P., Sirachainan N., Ruengdit C., Punyamung M., Pornprasert S. The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--<sup>CR</sup>) Type Deletion with Hb Constant Spring. Hemoglobin (2024). doi:10.1080/03630269.2024.2388661 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/100664
Title
The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--<sup>CR</sup>) Type Deletion with Hb Constant Spring
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Corresponding Author(s)
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Abstract
Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --CR/αCSα. A baby was born to a father and a mother with --CR and αCSα carriers, respectively. She had severe symptomatic hypochromic microcytic anemia at 2 months of age with Hb 7.8 g/dL, packed cell volume (PCV) 0.27 L/L, mean corpuscular volume (MCV) 64.3 fL, and mean corpuscular Hb (MCH) 18.3 pg. The Hb analysis using capillary electrophoresis (CE) showed Hb Bart’s, HbH, and Hb CS peaks at 17.1%, 2.2%, and 1.6%, respectively. A better understanding of a patient’s clinical and hematological features with --CR/αCSα is useful for hemoglobinopathy counseling for the national thalassemia controlling program.