Hemoglobin H disease caused by compound heterozygosity for α0-thalassemia Lamphun deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly case

We report here for the first time with the deletional HbH disease caused by a compound heterozygosity for α0-thalassemia Lamphun type deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly (61-year-old) subject. She was seen by her physician for fatigue and dyspnea. A physical examination revealed that she was a slightly pale patient. A complete blood cell count (CBC) showed microcytic hypochromic anemia (Hb 91 g/L, MCV 73.0 fL, and MCH 21.0 pg). However, she had no history for receiving a blood transfusion. Thus, the better understanding of genotype, phenotype, hematological and clinical features of this HbH disease (--Lamphun/-α3.7) will be useful for treatment, genetic counseling, prevention, and control programs of thalassemia in Thailand.

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Publication Details

Journal
Journal of Associated Medical Sciences
Published
2024-12-25
DOI
https://doi.org/10.12982/jams.2025.031
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
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article

Hemoglobin H disease caused by compound heterozygosity for α0-thalassemia Lamphun deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly case

Manoo Punyamung, Pinyaphat Khamphikham, Chedtapak Ruengdit, Sakorn Pornprasert et al.
Journal of Associated Medical Sciences
Hemoglobinopathies and Related Disorders
article

Hemoglobin H disease caused by compound heterozygosity for α0-thalassemia Lamphun deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly case

Manoo Punyamung, Pinyaphat Khamphikham, Chedtapak Ruengdit, Sakorn Pornprasert, Sasithorn Santiyos
article en

Abstract

We report here for the first time with the deletional HbH disease caused by a compound heterozygosity for α0-thalassemia Lamphun type deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly (61-year-old) subject. She was seen by her physician for fatigue and dyspnea. A physical examination revealed that she was a slightly pale patient. A complete blood cell count (CBC) showed microcytic hypochromic anemia (Hb 91 g/L, MCV 73.0 fL, and MCH 21.0 pg). However, she had no history for receiving a blood transfusion. Thus, the better understanding of genotype, phenotype, hematological and clinical features of this HbH disease (--Lamphun/-α3.7) will be useful for treatment, genetic counseling, prevention, and control programs of thalassemia in Thailand.

Journal of Associated Medical SciencesVol. 58(1)
Openalex Percentile: Top 55%
Hemoglobinopathies and Related Disorders
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Hemoglobin H disease caused by compound heterozygosity for α0-thalassemia Lamphun deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly case — Manoo Punyamung, Pinyaphat Khamphikham, et al. · Journal of Associated Medical Sciences (2024) | TGRS Research Map | TGRS