Haematological and clinical features of β-thalassaemia associated with Hb Dhofar

European Journal of Haematology

Volumn 80, Issue 1, 2008, Pages 67-70

  Daar, Shahina ^a   Gravell, David ^b   Hussein, Hussein M ^c   Pathare, Anil V ^b   Wali, Yasser ^a   Krishnamoorthy, Rajagopal ^c  

^a SULTAN QABOOS UNIVERSITY   (Oman)

^b SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^c HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

thalassaemia intermedia; Hb Dhofar; Oman

Indexed keywords

HEMOGLOBIN DHOFAR; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ADULT; AGE DISTRIBUTION; ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; ELECTROPHORETIC MOBILITY; HEMATOLOGY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SPLENECTOMY; SPLENOMEGALY;

BETA-THALASSEMIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ELECTROPHORESIS, CELLULOSE ACETATE; HEMATOLOGIC TESTS; HEMOGLOBINS, ABNORMAL; HUMANS; OMAN;

EID: 37249047466     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2007.00989.x     Document Type: Article

References (19)

1. Daar S, Hussain HM, Merghoub T, Krishnamoorthy R. Spectrum of β-thalassemia mutations in Oman. Ann N Y Acad Sci 1998 850 : 404 6.
2. Marengo-Rowe AJ, Lorkin PA, Gallo E, Lehmann H. Haemoglobin Dhofar - a new variant from Southern Arabia. Biochim Biophys Acta 1968 168 : 58 63.
3. Yanase T, Hanada M, Seita M, Oya I, Ota Y. Molecular basis of morbidity from a series of studies of haemoglobinopathies in Western Japan. Jpn J Hum Genet 1968 13 : 40 53.
4. Kawasaki K. Hemoglobin Yukuhashi (Dhofar): E2(58) beta proline yields arginine: structural and oxygen equilibrium studies of the variant found in two unrelated families. Fukuoka Igaku Zasshi 1974 65 : 622 35.
5. 58 Arg). J Clin Invest 1972 51 : 2520 9.
6. Williamson D, Brown KP, Langdown JV, Baglin TP. Haemoglobin Dhofar is linked to the codon 29 C - T (IVS1 nt-3) splice mutation which causes beta+ thalassaemia. Br J Haematol 1995 90 : 229 31.
7. Chehab FF, Der Kaloustain V, Khouri FP, Deeb SS, Kan YW. The molecular basis of β-thalassaemia in Lebanon: application to prenatal diagnosis. Blood 1987 69 : 1141 5.
8. Dimovski A, Efremov DG, Jankovic L, Juricic D, Zisovski N, Stojanovski N, Nikolov N, Petkov GT, Reese AL, Stoming TA. β- Thalassaemia in Yugoslavia. Hemoglobin 1990 14 : 15 24.
9. Curuk MA, Yuregir GT, Asadov CD, Dadasova T, Gu LH, Baysal E, Gu YC, Ribeiro ML, Huisman TH. Molecular characterisation of β- thalassaemia in Azerbaijan. Hum Genet 1992 90 : 417 9.
10. 6(A3) Glu-Val and 58 (E2) Pro-Arg): the second sickling variant with amino acid substitutions in two residues of the β polypeptide chain. FEBS Lett 1975 58 : 149 53.
11. Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M. A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms. Hum Mutat 1992 1 : 229 39.
12. Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal Gγ globin production. Blood 1985 66 : 783 7.
13. Traeger-Synodinos J, Kanavakis E, Tzetis M, Kattamis A, Kattamis C. Characterization of nondeletion alpha-thalassemia mutations in the Greek population. Am J Hematol 1993 44 : 162 7.
14. Jassim N, Al-Arrayed S, Gerard N, Al-Mukharraq H, Al Ajami A, Ramasawmy R, Krishnamoorthy R. A Mismatched-primer polymerase chain reaction-restriction fragment length polymorphism strategy for rapid screening of the polyadenylation signal mutation alpha (T-Saudi) (AATAAA-AATAAG) in the alpha2-globin gene. Hemoglobin 1999 23 : 213 20.
15. Shaji RV, Srivastava A, Chandy M, Krishnamoorthy R. A single tube multiplex PCR method to detect the common alpha+ thalassaemia alleles. Blood 2000 95 : 1879 80.
16. Al Riyami AA, Suleiman AJ, Afifi M, Al-Lamki ZM, Daar S. A community based study of common hereditary blood disorders in Oman. East Mediterr Health J 2001 7 : 1004 11.
17. Bunn HF, McDonald MJ. Electrostatic interactions in the assembly of hemoglobin. Nature 1983 306 : 498 500.
18. Mrabet NT, McDonald MJ, Turci S, Sarkar R, Szabo A, Bunn HF. Electrostatic attraction governs the dimer assembly of human hemoglobin. J Biol Chem 1986 261 : 5222 8.
19. Winichagoon P, Fucharoen S, Wilairat P, Chihara K, Fukumaki Y. Role of alternatively spliced beta E-globin mRNA on clinical severity of beta -thalassemia/hemoglobin E disease. Southeast Asian J Trop Med Public Health 1995 26 (Suppl. 1 241 5.