Presence of hemoglobinopathies in Sicily: A historic perspective

American Journal of Medical Genetics

Volumn 69, Issue 2, 1997, Pages 200-206

  Schilirò, Gino ^a   Mirabile, Elena ^a   Testa, Rosario ^a   Russo Mancuso, Giovanna ^a   Dibenedetto, Salvatore P ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

Hemoglobin variants; Hemoglobinopathies; Thalassemic mutations

Indexed keywords

GLOBIN; HEMOGLOBIN VARIANT;

ADOLESCENT; ADULT; AGED; ALLELE; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CHILD; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; INFANT; ITALY; MALE; MIDDLE AGED; POINT MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; ALLELES; ALPHA-THALASSEMIA; BETA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; FEMALE; GLOBINS; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; POINT MUTATION; SICILY;

EID: 0031575711     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970317)69:2<200::aid-ajmg17>3.0.co;2-p     Document Type: Review

References (35)

1. Amselem S, Nunes V, Vidaud M, Estivill X, Wong C, d' Auriol L, Vidaud D, Galibert F, Baiget M, Goossens M (1988): Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA. Am J Hum Genet 43:095.
2. Barrai I, Schilirò G, Beretta M, Mazzetti P, Russo A, Russo Mancuso G (1987): Population structure of Sicily: Beta-thalassemia and HbS. Hum Genet 75:1.
3. Cao A, Gossens M, Pirastu M (1989): β-Thalassemia mutations in Mediterranean populations. Br J Haematol 71:309.
4. Cavalli-Sforza LL, Bodmer W (1972): "The Genetics of Human Populations." San Francisco: Freeman.
5. Chami B, Blouquit Y, Bardakdjian-Michau J, Riou J, Wajcman H, Rosa J, Galactéros F (1994): Hemoglobin variants in North Africa. Hemoglobin 18:39.
6. Cremonesi L, Travi M, Li Volti S, Testa R, Schilirò G, Ferrari M (1989): Evidence for the single origin of the Hb G-San José in Sicily. Hemoglobin 13:579.
7. Crow JF, Mange AP (1965): Measurements of inbreeding from the frequency of marriages between persons of the same surnames. Rugen Q. 12:199.
8. Dimovski A, Efremov DG, Jankovic L, Juricic D, Zisovski N, Stoianovski N, Nikolov N, Petkov GT, Reese AL, Stoming TA, Efremov GD, Huisman THJ (1990): β-thalassemia in Yugoslavia. Hemoglobin 14:15.
9. Y motif at -530 5′ to the β-globin gene in over 40 patients homozygous for various β-thalassemia mutations. Am J Hematol 45:51.
10. Edington GM, Lehmann H (1954): Haemoglobin G. A new haemoglobin found in a West African. Lancet 2:173.
11. Efremov GD (1978): Hemoglobins Lepore and anti-Lepore. Hemoglobin 2:197.
12. Fei YJ, Kutlar F, Harris HF, Wilson MM, Milana A, Sciacca P, Schilirò G, Masala B, Manca L, Altay G, Gurgey A, de Pablos JM, Villegas A, Huisman THJ (1989): A search for anomalies in the ζ, α, β, and γ globin gene arrangements in normal Black, Italian, Turkish, and Spanish newborns. Hemoglobin 13:45.
13. Fioretti G, De Angioletti M, Masciangelo F, Lacerra G, Scarallo A, De Bonis C, Pagano L, Guarino E, De Rosa L, Salvati F, Carestia C (1992): Origin heterogeneity of Lepore-Boston gene in Italy. Am J Hum Genet 50:781.
14. Huisman THJ, Kutlar F, Gu L-H (1991): γ chain abnormalities and γ-globin gene rearrangements in newborn babies of various populations. Hemoglobin 15:349.
15. Kutlar F, Kutlar A, Huisman THJ (1986): Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography. J Chromatogr 357:147.
16. Livingstone FB (1967): "Abnormal Haemoglobins in Human Populations." Chicago: Aldine.
17. Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Cremades JM (1990): A survey of structural hemoglobinopathies in the Canary islands. Hemoglobin 14:477.
18. Marinucci M, Mavilio F, Massa A, Gabbianelli M, Fontanarosa PP, Samoggia P, and Tentori L (1979): Hemoglobin Lepore trait: Haematological and structural studies on the Italian population. Br J Haematol 42:557.
19. Masala B (1992): Hemoglobinopathies in Sardinia. Hemoglobin 16:331.
20. 20.5 is the most frequent large deletion in the Puglia region of Italy. Hemoglobin 18:353.
21. Mirabile E, Testa R, Consalvo C, Dickerhoff R, Schilirò G (1995): Association of Hb S/Hb Lepore and δβ-thalassemia/Hb Lepore in Sicilian patients: Review of the presence of Hb Lepore in Sicily. Eur J Haematol 55:126.
22. Pagnier J, Mears JG, Dunda-Belkhodja O, Schaefer-Rego KE, Beldjord C, Nagel RL, Labie D (1984): Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci USA 81:1771.
23. Pirastu M, Lee KY, Dozy AM, Kan YW, Stamatoyannopoulos G, Hadjiminas MG, Zachariades Z, Angius A, Furbetta M, Rosatelli C, Cao A (1982): Alpha-thalassemia in two mediterranean populations. Blood 60:509.
24. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S (1982): Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes. Hemoglobin 6:27.
25. Samperi P, Russo Mancuso G, Dibenedetto SP, Di Cataldo A, Ragusa R, Schilirò G (1991): High performance liquid chromatography (HPLC): A simple method to quantify Hbs C, O-Arab., Agenogi and Hb F. Clin Lab Hematol 13:169.
26. Schilirò G (1986): Hemoglobin C disorders in Whites. Am J Med Gen 24:197.
27. Schilirò G, Li Volti S, Musumeci S, Mollica F, Marinucci M, Mavilio L, Tentori L (1981): Sicily: A cluster of Hb G-San José. Hemoglobin 5:725.
28. Schilirò G, Li Volti S (1986): Did the Hb G San José gene arise in Sicily? J Med Genet 23:281.
29. Schilirò G, Rizzari C, Testa R, Lo Faro F, Comisi FF, Russo A (1989): Association of Hb S [β6(A3)Glu→Val] and Hb I-Interlaken [α15(A13)Gly→Asp] in a Sicilian man; review of the occurrence of Hb I-interlaken in Sicily. Hemoglobin 13:403.
30. Schilirò G, Russo Mancuso G, Dibenedetto SP, Samperi P, Di Cataldo A, Ragusa R, Testa R (1991): Six rare hemoglobin variants found in Sicily. Hemoglobin 15:431.
31. Schilirò G, Samperi P, Testa R, Gupta RB, Gu L-H, Huisman THJ (1992): Clinical, hematological and molecular features in Sicilians with Hb S-β-thalassemia. Am J Hematol 41:264.
32. Schilirò G, Rodriguez-Larralde A, Mamolini E, Scapoli C, Barrai I (1993): Isonymy in Haemoglobinopathies in a Sicilian sample. Hum Hered 43:203.
33. Schilirò G, Di Gregorio L, Samperi P, Mirabile E, Liang R, Curuk MA, Ye Z, Huisman THJ (1995): Genetic heterogeneity of β-thalassemia in Southeast Sicily. Am J Hematol 48:5.
34. Travi M, Cremonesi L, Primignani P, Russo A, Testa R, Schilirò G, Ferrari M (1992): Molecular characterization of hemoglobin C in Sicily. Am J Hematol 39:5.
35. c mutation in Africa. Hum Genet 87:597.