Hb Dhonburi (Neapolis) [β126(H4)Val→Gly] identified in a family from northern Iran

Hemoglobin

Volumn 28, Issue 4, 2004, Pages 353-356

  Moghimi, Babak ^a   Yavarian, Majid ^b   Oberkanins, Christian ^c   Amini, Seyyed Saeid Hosseini ^d   Khatami, Shohreh ^e   Rouhi, Soghra ^e   Kahrizi, Kimia ^f   Najmabadi, Hossein ^d,f  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b HORMOZGAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c VIENNALAB DIAGNOSTICS GMBH   (Austria)

^d Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^e PASTEUR INSTITUTE OF IRAN   (Iran)

^f UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

Author keywords

Hb Dhonburi (Neapolis); Iran; Thalassemia

Indexed keywords

HEMOGLOBIN DHONBURI; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FAMILY STUDY; FEMALE; FETUS; GENE MUTATION; GLOBIN GENE; HEMOGLOBIN DETERMINATION; HETEROZYGOTE; HUMAN; IRAN; MALE; PRENATAL DIAGNOSIS; THALASSEMIA;

BETA-THALASSEMIA; FAMILY; FEMALE; HEMOGLOBINS, ABNORMAL; HUMANS; IRAN; MALE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 9644265150     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-200038876     Document Type: Article

References (10)

1. Clarke GM, Higgins TN. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clin Chem 2000; 46(8, Pt. 2):1284-1290.
2. Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev 2003; 17(1):43-53.
3. Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, Amirizadeh N, Karimi-Nejad MH. The β-thalassemia mutation spectrum in the Iranian population. Hemoglobin 2001; 25(3):285-296.
4. Najmabadi H, Pourfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins C. Rare and unexpected mutations among Iranian β-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. Haematologica 2002; 87(10):1113-1114.
5. 3.7 deletion among thalassemia patients in Iran. Hemoglobin 2003; 27(1):53-55.
6. Garshasbi M, Oberkanins C, Law HY, Neishabury M, Kariminejad R, Najmabadi H. α-Globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia. Haematologica 2003; 88(10):1196-1197.
7. 2126(H4)Val→Gly: a new unstable α variant producing a β-thalassemia intermedia phenotype in association with β°-thalassemia. Am J Hematol 1990; 35(2):96-99.
8. Pagano L, Lacerra G, Camardella L, De Angioletti M, Fioretti G, Maglione G, de Bonis C, Guarino E, Viola A, Cutolo R, De Rosa L, Carestia C. Hemoglobin Neapolis, β126(H4)Val→Gly: a novel β-chain variant associated with a mild β-thalassemia phenotype and displaying anomalous stability features. Blood 1991; 78(11):3070-3075.
9. Pagano L, Carbone V, Fioretti G, Viola A, Buffardi S, Rametta V, Desicato S, Pucci P, De Rosa C. Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [β126(H4)Val→Gly] in a patient from Naples, Italy. Hemoglobin 1997; 21(1):1-15.
10. Huisman THJ, Carver MFH, Baysal E. A Syllabus of Thalassemia Mutations (1997). Augusta: The Sickle Cell Anemia Foundation, 1997.