Homozygosity for the severe β;+-thalassemia mutation [IVS-I-5 (G>C)] causes the phenotype of thalassemia trait: An extremely rare presentation

Hemoglobin

Volumn 37, Issue 1, 2013, Pages 101-105

  Bohara, Vinaykumar ^a   Raut, Lalit ^a   Badarkhe, Girish ^a   Roy, Siddartha S ^a   Chaudhuri, Utpal ^a  

^a MEDICAL COLLEGE AND HOSPITAL   (India)

Author keywords

Thalassemia ( thal); Hb F; IVS I 5 (G>C)

Indexed keywords

DNA; HEMOGLOBIN A; HEMOGLOBIN A2; HEMOGLOBIN F;

ADULT; ANEMIA; ARTICLE; BETA THALASSEMIA; BLOOD SMEAR; BLOOD TRANSFUSION; CASE REPORT; DNA DETERMINATION; GENE INTERACTION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; IRON DEFICIENCY; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PROMOTER REGION; SCREENING; SPLENOMEGALY;

ADOLESCENT; BETA-GLOBINS; BETA-THALASSEMIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FETAL HEMOGLOBIN; HEMOGLOBINS; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 84872165350     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2012.751395     Document Type: Article

References (9)

1. Ratip S, Petrou M, Old JM, Wonke B, Porter JB, Modell B. Relationship between the severity of β thalassemia syndromes and the number of alleviating mutations. Eur J Haematol. 1997;58(1):14-21. (Pubitemid 27047127)
2. Amato A, Cappabianca MP, Ponzini D, et al. Detection of a rare β-globin nonsense mutation [codon 59 (AATAG)] in an Italian family. Hemoglobin. 2006;30(3):405-407. (Pubitemid 44091805)
3. Sampietro M, Cazzola M, Cappellini MD, Fiorelli G. The triplicated α-gene locus and heterozygous β-thalassaemia: a case of thalassaemia intermedia. Br J Haematol. 1983;55(4):709-710.
4. Altay Ç, Öner C, Öner R, Gümrük F, Mergen H, Gürgey A. Effect of α-gene numbers on the expression of β-thalassemia intermedia, β-thalassemia and (δβ)0- thalassemia traits. Hum Hered. 1998; 48(3):121-125. (Pubitemid 28220758)
5. Orkin SH, Kazazian HH, Antonarakis SE, et al. Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human globin gene cluster. Nature. 1982;296 (5858):267-631.
6. Ambekar SS, Phadke MA, Balpande DN, et al. The prevalence and heterogeneity of β thalassemia mutations in the western Maharashtra population-A hospital based study. Int J Hum Genet. 2001;1(3):219-223.
7. Colah R, Nadkarni A, Gorakshakar A, et al. Impact of β globin gene mutation on the clinical phenotype of β thalassemia in India. Blood Cells Mol Dis. 2004;33(2):153-157. (Pubitemid 39094723)
8. Thein SL, Mendel S, Lathrop M, Garner C. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet. 2009;18(R2):R216-R223.
9. Ragusa A, Amata S, Lombard T, et al. Asymptomatic and mild β thalassemia in homozygotes and compound heterozygotes for IVS2 \+ 1G>A mutation: role of the β-globin gene haplotype. Hematologica. 2003;88(10):1099-1105. (Pubitemid 37362540)