Human Genetics

, Volume 76, Issue 2, pp 196–198 | Cite as

α-Thalassemia in Saudi Arabia: deletion pattern

  • M. A. F. El-Hazmi
Original Investigations


α-Thalassemia exists at a high prevalence in several regions of Saudi Arabia. The restriction endonucleases Bam HI and BglII were used to investigate the molecular basis of deletion type of α-thalassemia in 226 subjects from the eastern and 61 subjects from the northwestern regions of the country. The arrangements-α/αα and-α/-α were common. BglII digestion revealed the existence of rightward deletion in a majority of the cases. Leftward deletions, both homozygous and heterozygous, were also identified. Triple α-gene arrangements -α/αα and -α/-α were observed at a low frequency in both regions.


Internal Medicine Restriction Endonuclease Metabolic Disease Molecular Basis Northwestern Region 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Dacie JV, Lewis SM (1975) Practical haematology, 5th edn. Livingstone, LondonGoogle Scholar
  2. El-Hazmi MAF (1982) Haemoglobin disorders: a pattern for thalasaemia and haemoglobinopathies in Arabia. Acta Haematol 68:43–51Google Scholar
  3. El-Hazmi MAF (1983) Abnormal haemoglobin and allied disorders in the Middle East-Saudi Arabia. In: Bowman JE (ed) Distribution and evolution of hemoglobin and globin loci. Elsevier, New York Amsterdam, pp 239–249Google Scholar
  4. El-Hazmi MAF (1986) Leftward deletion α-thalassaemia in the Saudi population. Hum Genet 74:219–222Google Scholar
  5. El-Hazmi MAF, Warsy AS (1986) Double heterozygous rightward/leftward deletion α-thalassaemia in the Saudi population. Hum Hered 36:222–226Google Scholar
  6. El-Hazmi MAF (1987) Haplotypes of alphaglobin-gene in the Saudi population — the triplicated gene (ααα anti 3.7). Hum Hered (in press)Google Scholar
  7. Embury SH, Lebo RV, Dozy AM, Kan YM (1979) Organization of the α-globin in genes in the Chinese α-thalassaemia syndromes. J Clin Invest 63:1307–1310Google Scholar
  8. Embury SH, Miller JA, Dozy AM, Kan YM, Chan V, Todd D (1980) Two different molecular organizations account for the single α-globin gene of the α-thalassaemia.2 genotype. J Clin Invest 66: 1319–1329Google Scholar
  9. Embury SH, Gholson MA, Gillette P, Rieder RF, and the National Cooperative Study of Sickle Cell Disease (1985) The leftward deletion α-thalassaemia.2 haplotype in a black subject with haemoglobin SS. Blood 65:769–771Google Scholar
  10. Goosen M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyaunoupoules G, Kan YW (1980) Triplicated α-globin loci in man. Proc Natl Acad Sci USA 77:518–521Google Scholar
  11. Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ (1980a) A novel α-globin gene arrangement in man. Nature 284:632–635Google Scholar
  12. Higgs DR, Pressley L, Clegg JB, Weatherall DJ, Serjeant DR (1980b) α-Thalassaemia in Black populations. Johns Hopkins Med J 146:300–310Google Scholar
  13. Jeffreys AJ, Flavell RA (1977) A physical map of the DNA regions flanking the rabbit β-globin gene. Cell 12:429–439Google Scholar
  14. Kan YW, Dozy AM, Trecartin R, Todd D (1977) Identification of a non-deletion defect in α-thalassaemia. N Engl J Med 297:1081–1084Google Scholar
  15. Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller DJ (1977) Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245–1249Google Scholar
  16. Liebhaber SA, Grossens M, Kan YM (1981) Homology and concerted evolution at the α1 and α2 loci of human α-globin. Nature 290:26–29Google Scholar
  17. Lie-Injo LE, Solai A, Herrera AR, Nicohaisen L, Kan YW, Wan WP, Hasan K (1982) Hb Barts level in cord blood and deletion of α-globin genes. Blood 59:370–376Google Scholar
  18. Orkin SH, Old J, Lazarus H, Altay C, Gurgey A, Weatherall DJ, Nathan DG (1979) The molecular basis of α-thalassaemia: frequent occurrence of dysfunctional α-loci detected by restriction endonuclease mapping. Cell 17:33–42Google Scholar
  19. Pressley L, Higgs DR, Clegg JB, Perrine RP, Pembrey ME, Weatherall DJ (1980) A new genetic basis for hemoglobin H disease. N Engl J Med 303:1383–1388Google Scholar
  20. Southern EM (1975) Detection of specific sequence among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517Google Scholar
  21. Troungos C, Krishnamoorthy R, Lombardo T, Sortino G, Cacciola E, Labie D (1984) A leftward deletion α+-thalassaemia found in East Sicily in conjunction with heterozygous β-thalassaemia. Hum Genet 67:216–218Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • M. A. F. El-Hazmi
    • 1
    • 2
  1. 1.Department of Medical BiochemistryCollege of MedicineRiyadhSaudi Arabia
  2. 2.King Khalid HospitalRiyadhSaudi Arabia

Personalised recommendations