Molecular basis of Hb H disease in southwest Iran

Hemoglobin

Volumn 29, Issue 1, 2005, Pages 43-50

  Yavarian, Majid ^a   Karimi, Mehran ^b   Zorai, Amine ^c   Harteveld, Cornelis L ^a   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c PASTEUR INSTITUTE OF TUNIS   (Tunisia)

Author keywords

Hb H disease; Iran; Thalassemia

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN F; HEMOGLOBIN H; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALGORITHM; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CHILD; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE CLUSTER; GENE DELETION; HEMOGLOBIN CONSTANT SPRING; HUMAN; IRAN; IRON DEFICIENCY ANEMIA; MALE; POLYMERASE CHAIN REACTION;

ANEMIA; COHORT STUDIES; FEMALE; GENETIC SCREENING; HEMOGLOBIN H; HEMOGLOBINS, ABNORMAL; HUMANS; IRAN; MALE; MUTATION; POLYMERASE CHAIN REACTION;

HYDROPS; IRANIA;

EID: 14644400560     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-200047019     Document Type: Article

References (36)

1. Bernini LF. Geographic Distribution of α Thalassemia. 1st ed. Cambridge: Cambridge University Press, 2001:878-894.
2. + thalassaemia in two Dutch families. Br J Haematol 1996; 95(3):461-466.
3. Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC. α-Thalassaemia as a result of a novel splice donor site mutation of the α1-globin gene. Br J Haematol 2000; 110(3):694-698.
4. Noguera NI, Gonzalez FA, Davoli RA, Milani AC, Villegas A. A novel splice acceptor site mutation of the α2-globin gene causing α-thalassemia. Hemoglobin 2001; 25(3):311-315.
5. Higgs DR, Goodboum SE, Lamb J, Clegg JB, Weatherall DJ, Proudfoot NJ. α-Thalassaemia caused by a polyadenylation signal mutation. Nature 1983; 306(1941):398-400.
6. Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci U S A 1981; 78(8):5041-5045.
7. Oner C, Gurgey A, Oner R, Balkan H, Gumruk F, Baysal E, Altay C. The molecular basis of Hb H disease in Turkey. Hemoglobin 1997; 21(1):41-51.
8. Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood 2003; 101(3):791-800.
9. Rahbar S, Nozari G, Asmerom Y, Martin PA, Yeh CH, Lee TD. Association of Hb Hope [β136(H14)Gly→Asp] and α-thalassemia-2 (3.7 Kb deletion) causing severe microcytic anemia. Hemoglobin 1992; 16(5):421-425.
10. Rahbar S. Hemoglobin H disease in two Iranian families. Clin Chim Acta 1968; 20(3):381-385.
11. Neishabury M, Abbasi L, Poorfathollah AA, Kahrizi K, Keyhany E, Krugluger W, Oberkanins C, Najmabadi H. α Thalassemia: deletion analysis in Iran. Arch Irn Med 2001; 4(4):160-164.
12. Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of α-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol 2003; 74(1):1-5.
13. Dacie JV, Lewis SM. Practical Haematology. 7th ed. Edinburgh: Churchill Livingstone, 1991.
14. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3):1215.
15. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000; 108(2):295-299.
16. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000; 95(1):360-362.
17. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF. Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Hum Mutat 1996; 7(2):114-122.
18. Miles KL, Norwich JT, Martinson JJ, Clegg JB. Polymerase chan reaction protocols for α globin haplotype polymorphism. Br J Haematol 2001; 113(3):694-698.
19. Higgs DR, Wainscoat JS, Flint J, Hill AV, Thein SL, Nicholls RD, Teal H, Ayyub H, Peto TE, Falusi AG. Analysis of the human α-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci USA 1986; 83(14):5165-5169.
20. Weatherall DJ, Clegg JB. The Thalassaemia Syndromes. 4th ed. Oxford: Blackwell Scientific Publishers, 2001.
21. El-Kalla S, Baysal E. α-Thalassemia in the United Arab Emirates. Acta Haematol 1998; 100(1):49-53.
22. Thein SL, Wallace RB, Pressley L, Clegg JB, Weatherall DJ, Higgs DR. The polyadenylation site mutation in the α-globin gene cluster. Blood 1988; 71(2):313-319.
23. S haplotype and α-globin gene patterns among sickle cell anemia patients in Kuwait. Acta Haematol 1996; 96(2):150-154.
24. Kanavakis E, Papassotiriou I, Karagiorga M, Vrettou C, Metaxotou-Mavrommati A, Stamoulakatou A, Kattamis C, Traeger-Synodinos J. Phenotypic and molecular diversity of Haemoglobin H disease: a Greek experience. Br J Haematol 2000; 111(3):915-923.
25. Fei YJ, Oner R, Bozkurt G, Gu L-H, Altay C, Gurgey A, Fattoum S, Baysal E, Huisman THJ. Hb H disease caused by a homozygosity for the AATAAA→AATAAG mutation in the polyadenylation site of the α2-globin gene: hematological observations. Acta Heamatol 1992; 88(2):82-85.
26. Traeger-Synodinos J, Kanavakis E, Tzetis M, Kattamis A, Kattamis C. Characterization of nondeletion α-thalassenua mutations in the Greek population. Am J Hematol 1993; 44(3):162-167.
27. Yuregir GT, Aksoy K, Curuk MA, Dikmen N, Fei YJ, Baysal E, Huisman THJ. Hb H disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly A mutation. Br J Haematol 1992; 80(4):527-532.
28. Tamary H, Klinger G, Shalmon L, Kirschmann H, Koren A, Bennet M, Zaizov R. The diverse molecular basis and mild clinical picture of Hb H disease in Israel. Ann NY Acad Sci 1998; 850:432-435.
29. Giordano PC, Harteveld CL, Michiels JJ, Terpstra W, Schelfhout LJDM, Appel IM, Batelaan D, van Delft P, Plug RJ, Bernini LF. Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd 121 (G→T) mutation. Ann Hematol 1998; 77(6):249-255.
30. Wickramasinghe SN, Lee MJ. Evidence that the ubiquitin proteolytic pathway is involved in the degradation of precipitated globin chains in thalassaemia. Br J Haematol 1998; 101(2):245-250.
31. 2-globin gene. Am J Hematol 1991; 38(4):277-280.
32. Wasi P, Pootrakul S, Pootrakul P, Pravatmuang P, Winichagood P, Fucharoen S. Thalassemia in Thailand. Ann NY Acad Sci 1980; 344:352-363.
33. Schrier SL, Bunyaratvej A, Khuhapinant A, Fucharoen S, Aljurf M, Snyder LM, Keifer CR, Ma L, Mohandas N. The unusual pathobiology of Hemoglobin Constant Spring red blood cells. Blood 1997; 89(5):1762-1769.
34. Canessa M. Red cell volume-related ion transport systems in hemoglobinopathies. Hematol/Oncol Clin North Am 1991; 5(3):495-516.
35. Zorai A, Harteveld CL, Bakir A, van Delft P, Falfoul A, Dellagi K, Abbes S, Giordano PC. Molecular spectrum of α-thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin 2002; 26(4):353-362.
36. Zorai A, Abbes S, Prehu C, Omar S, Gerard N, Hafsia R, Asma B, Guemira F, Dellagi K. Hb H disease among Tunisians: molecular characterization of α-thalassemia determinants and hematological findings. Hemoglobin 2003; 27(1):57-61.