Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis
Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α). The co-inheritance of β-thalassemia with α-thalass...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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The Genetics Society of Japan
2009
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| Online Access: | http://psasir.upm.edu.my/id/eprint/17004/ http://psasir.upm.edu.my/id/eprint/17004/1/Thalassemia%20intermedia%20in%20HbH.pdf |
| _version_ | 1848843119760506880 |
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| author | Tan, Mary Anne Jin Ai Kok, Juan Loong Tan, Kim Lian Wee, Yong Chui George, Elizabeth |
| author_facet | Tan, Mary Anne Jin Ai Kok, Juan Loong Tan, Kim Lian Wee, Yong Chui George, Elizabeth |
| author_sort | Tan, Mary Anne Jin Ai |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α). The co-inheritance of β-thalassemia with α-thalassemia with a single gene deletion (-α/αα) is usually associated with thalassemia major. In contrast, the co-inheritance of β-thalassemia with two α-genes deleted in cis or trans (--/αα or -α/-α) generally produces β-thalassemia intermedia. In Southeast Asia, the most common defect responsible for α-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. The presence of the SEA deletion with Hb Constant Spring (HbCS) produces HbH-CS disease. Co-inheritance of HbH-CS with compound heterozygosity for β-thalassemia is very rare. This study presents a Malay patient with HbH-CS disorder and β° /β +-thalassemia. The SEA deletion was confirmed in the patient using a duplex-PCR. A Combine-Amplification Refractory Mutation System (C-ARMS) technique to simultaneously detect HbCS and Hb Quong Sze confirmed HbCS in the patient. Compound heterozygosity for CD41/ 42 and Poly A was confirmed using the ARMS. This is a unique case as the SEA α-gene deletion in cis (-- SEA/αα) is generally not present in the Malays, who more commonly posses the two α-gene deletion in trans (-α/-α). In addition, the β-globin gene mutation at CD41/42 is a common mutation in the Chinese and not in the Malays. The presence of both the SEA deletion and CD41/42 in the mother of the patient suggests the possible introduction of these two defects into the family by marriage with a Chinese. |
| first_indexed | 2025-11-15T08:09:58Z |
| format | Article |
| id | upm-17004 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T08:09:58Z |
| publishDate | 2009 |
| publisher | The Genetics Society of Japan |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-170042016-11-30T01:33:22Z http://psasir.upm.edu.my/id/eprint/17004/ Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis Tan, Mary Anne Jin Ai Kok, Juan Loong Tan, Kim Lian Wee, Yong Chui George, Elizabeth Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α). The co-inheritance of β-thalassemia with α-thalassemia with a single gene deletion (-α/αα) is usually associated with thalassemia major. In contrast, the co-inheritance of β-thalassemia with two α-genes deleted in cis or trans (--/αα or -α/-α) generally produces β-thalassemia intermedia. In Southeast Asia, the most common defect responsible for α-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. The presence of the SEA deletion with Hb Constant Spring (HbCS) produces HbH-CS disease. Co-inheritance of HbH-CS with compound heterozygosity for β-thalassemia is very rare. This study presents a Malay patient with HbH-CS disorder and β° /β +-thalassemia. The SEA deletion was confirmed in the patient using a duplex-PCR. A Combine-Amplification Refractory Mutation System (C-ARMS) technique to simultaneously detect HbCS and Hb Quong Sze confirmed HbCS in the patient. Compound heterozygosity for CD41/ 42 and Poly A was confirmed using the ARMS. This is a unique case as the SEA α-gene deletion in cis (-- SEA/αα) is generally not present in the Malays, who more commonly posses the two α-gene deletion in trans (-α/-α). In addition, the β-globin gene mutation at CD41/42 is a common mutation in the Chinese and not in the Malays. The presence of both the SEA deletion and CD41/42 in the mother of the patient suggests the possible introduction of these two defects into the family by marriage with a Chinese. The Genetics Society of Japan 2009 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/17004/1/Thalassemia%20intermedia%20in%20HbH.pdf Tan, Mary Anne Jin Ai and Kok, Juan Loong and Tan, Kim Lian and Wee, Yong Chui and George, Elizabeth (2009) Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis. Genes & Genetic Systems, 84 (1). pp. 67-71. ISSN 1341-7568; ESSN: 1880-5779 https://www.jstage.jst.go.jp/article/ggs/84/1/84_1_67/_article 10.1266/ggs.84.67 |
| spellingShingle | Tan, Mary Anne Jin Ai Kok, Juan Loong Tan, Kim Lian Wee, Yong Chui George, Elizabeth Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| title | Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| title_full | Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| title_fullStr | Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| title_full_unstemmed | Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| title_short | Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| title_sort | thalassemia intermedia in hbh-cs disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis |
| url | http://psasir.upm.edu.my/id/eprint/17004/ http://psasir.upm.edu.my/id/eprint/17004/ http://psasir.upm.edu.my/id/eprint/17004/ http://psasir.upm.edu.my/id/eprint/17004/1/Thalassemia%20intermedia%20in%20HbH.pdf |