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Literature DB >> 10607725

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

S S Chong¹, C D Boehm, D R Higgs, G R Cutting.

Abstract

Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease) or lethal (Hb Bart's hydrops fetalis). We have developed a reliable, single-tube multiplex-polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of alpha-thalassemia. The assay allows simple, high throughput genetic screening for these common hematological disorders. (Blood. 2000;95:360-362)

Entities: Disease Gene

Mesh：

Substances：
DNA Primers
Globins
DNA

Year: 2000 PMID： 10607725

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

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Cited

118 in total

1. Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months.

Authors: Kendra A Byrd; Thomas N Williams; Audrie Lin; Amy J Pickering; Benjamin F Arnold; Charles D Arnold; Marion Kiprotich; Holly N Dentz; Sammy M Njenga; Gouthami Rao; John M Colford; Clair Null; Christine P Stewart
Journal: J Nutr Date: 2018-12-01 Impact factor: 4.798

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

1. Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months.

2. Rapid, accurate genotyping of the common -alpha(4.2) thalassaemia deletion based on the use of denaturing HPLC.

3. Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India.

4. Refinement of the genetic cause of ATR-16.

5. The epidemiology of abnormal hemoglobins in Mediterranean high-level athletes.

6. A mechanism of ineffective erythropoiesis in β-thalassemia/Hb E disease.

7. A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.

8. A multiplex approach to the molecular diagnosis of β-thalassemia.

9. Simple method for screening of alpha-thalassaemia 1 carriers.

10. Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.