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.
Authors
- Manoo Punyamung
- Pinyaphat Khamphikham (ORCID: https://orcid.org/0000-0002-4597-6272)
- Chedtapak Ruengdit
- Sakorn Pornprasert (ORCID: https://orcid.org/0000-0003-0280-5569)
- Sasithorn Santiyos
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
- Field-Weighted Citation Impact
- 0.00