The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
Genetic and Clinical Features of Hemoglobin H Disease in Chinese Patients
Abstract
BACKGROUND: Normally, one pair of each of the two alpha-globin genes, alpha1 and alpha2, resides on each copy of chromosome 16. In hemoglobin H disease, three of these four alpha-globin genes are affected by a deletion, a mutation, or both. We studied the alpha1-globin gene abnormalities and the clinical and hematologic features of Chinese patients with hemoglobin H disease in Hong Kong. METHODS: We assessed the clinical features, hematologic values, serum ferritin levels, and liver function of 114 patients with hemoglobin H disease. We also performed echocardiography and magnetic resonance imaging of the liver and examined the two pairs of alpha-globin genes. RESULTS: Hemoglobin H disease in 87 of the 114 patients (76 percent) was due to the deletion of three of the four alpha-globin genes (--/-alpha), a combination termed the deletional type of hemoglobin H. The remaining 27 patients (24 percent) had the nondeletional type of hemoglobin H disease, in which two alpha-globin genes are deleted and a third is mutated (--/alphaalphaT). All 87 patients with the deletional type of hemoglobin H were double heterozygotes in whom there was a deletion of both alpha-globin genes from one chromosome, plus a deletion of the alpha1 or alpha2 gene from the other chromosome (--/alpha- or --/-alpha). A variety of mutated alpha-globin genes was found in the patients with nondeletional type of hemoglobin H disease. Patients with the nondeletional type of the H disease had more symptoms at a younger age, more severe hemolytic anemia, and larger spleens and were more likely to require transfusions than patients with deletional hemoglobin H disease. The severity of iron overload was not related to the genotype. CONCLUSIONS: Chinese patients in Hong Kong with the nondeletional type of hemoglobin H disease have more severe disease than those with the deletional type of the disease. Iron overload is a major cause of disability in both forms of the disease.
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“The relatively low number of 3′UTR variants reported in HBA1 (only two) compared to HBA2 (eleven) may be due to higher transcriptional activity of HBA2, which is expressed 2–3 times more than HBA1.”
From Importance of the 3′UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia (2025) · cites this paper as [16]
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“This is partly because HBA2 is located closer to the primary regulatory element HS-40 and has promoter variants that enhance transcription. Additionally, HBA2 mRNA is generally more stable, contributing to its higher expression levels [15–17].”
From Importance of the 3′UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia (2025) · cites this paper as [16]
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Cited by
Diabetes in Asia: Epidemiology, Risk Factors, and Pathophysiology
Chan, J. C. N., Malik, V., Jia, W., Kadowaki, T., Yajnik, C. S., Yoon, K.-H., & Hu, F. B. (2009) · JAMA · doi:10.1001/jama.2009.726 · Cited by 1,997
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Metadata
- Authors
- Chen, F. E., Ooi, C., Ha, S. Y., Cheung, B. M. Y., Todd, D., Liang, R., Chan, T. K., & Chan, V.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2000-08-24
- Volume
- 343
- Issue
- 8
- Pages
- 544-550
- ISSN
- 0028-4793
- 1533-4406
- Cited by
- 180
- References
- 38
- Language
- en
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- Chen, F. E., Ooi, C., Ha, S. Y., Cheung, B. M. Y., Todd, D., Liang, R., Chan, T. K., & Chan, V. (2000). Genetic and Clinical Features of Hemoglobin H Disease in Chinese Patients. New England Journal of Medicine. https://doi.org/10.1056/nejm200008243430804
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