Delta Beta (F)-thalassaemia in Sardinia

Overview

Journal J Med Genet

Specialty Genetics

Date 1982 Jun 1

PMID 6180167

Citations 5

Authors

A Cao

M A Melis

R Galanello

A Angius

M Furbetta

P Giordano

L F Bernini

Affiliations

Soon will be listed here.

Abstract

A population survey carried out in southern sardinia on more than 5000 people has shown that delta beta (F)-thalassaemia, with a gene frequency of 0-00088, is a rare trait in this population. We examined the members of three families segregating for both delta beta- and beta(0)-thalassemia and a number of delta beta carriers identified during the screening. The doubly heterozygous children suffer from a mild form of Cooley's disease with non-alpha/alpha biosynthetic ratios within the range of values observed in beta (0)-thalassaemia homozygotes. Three of them have been transfusion dependent for some time. The delta beta carriers, although in many respects showing the usual picture of delta beta-thalassaemia, such as abnormal red cell indices, normal Hb A2, Hb F heterogeneously distributed in the erythrocytes, and low beta/alpha synthetic ratios, have unusually high levels of Hb F (range 10 to 20%) and particularly low glycine content (range 0.02 to 0.14 residues) in the isolated gamma CB3 peptide. These results have led us to the conclusion that the delta beta-thalassaemia found in Sardinia is different from the similar kind of delta beta defect found in Negroes and in other Mediterranean populations, including continental Italians.

Citing Articles

Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

Kumar B, Choccalingam C, Samuel P J Clin Diagn Res. 2016; 10(3):BD01-2.

PMID: 27134860 PMC: 4843246. DOI: 10.7860/JCDR/2016/16352.7409.

Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin.

Verma S, Bhargava M, Mittal S, Gupta R Iran J Ped Hematol Oncol. 2014; 3(1):222-7.

PMID: 24575268 PMC: 3915439.

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.

Guida S, Giglioni B, Comi P, Ottolenghi S, Camaschella C, Saglio G EMBO J. 1984; 3(4):785-7.

PMID: 6327288 PMC: 557427. DOI: 10.1002/j.1460-2075.1984.tb01885.x.

A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.

Ottolenghi S, Camaschella C, Comi P, Giglioni B, Longinotti M, Oggiano L Hum Genet. 1988; 79(1):13-7.

PMID: 2452784 DOI: 10.1007/BF00291702.

Analyses of linked beta-globin genes suggest that nondeletion forms of hereditary persistence of fetal hemoglobin are bona fide switching mutants.

Metherall J, Gillespie F, Forget B Am J Hum Genet. 1988; 42(3):476-81.

PMID: 2450454 PMC: 1715159.

References

Comings D, Motulsky A . Absence of cis delta chain synthesis in (sigma beta) thalassemia (F-thalassemia). Blood. 1966; 28(1):54-69. View

Brancati C, Baglioni C . Homozygous beta-delta thalassaemia (beta-delta microcythaemia). Nature. 1966; 212(5059):262-4. DOI: 10.1038/212262a0. View

Schroeder W, HUISMAN T, Shelton J, Shelton J, Kleihauer E, DOZY A . Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin. Proc Natl Acad Sci U S A. 1968; 60(2):537-44. PMC: 225081. DOI: 10.1073/pnas.60.2.537. View

SILVESTRONI E, Bianco I, Reitano G . Three cases of homozygous beta, delta-thalassemia (or microcythaemia) with high haemoglobin F in a Sicilian family. Acta Haematol. 1968; 40(4):220-9. DOI: 10.1159/000208907. View

Kan Y, Schwartz E, Nathan D . Globin chain synthesis in the alpha thalassemia syndromes. J Clin Invest. 1969; 47(11):2512-22. PMC: 297416. DOI: 10.1172/JCI105933. View

Bernini L . Rapid estimation of hemoglobin A2 by DEAE chromatography. Biochem Genet. 1969; 2(4):305-10. DOI: 10.1007/BF01458491. View

Stamatoyannopoulos G, FESSAS P, Papayannopoulou T . F-Thalassemia. A study of thirty-one families with simple heterozygotes and combinations of F-Thalassemia with A2-Thalassemia. Am J Med. 1969; 47(2):194-208. DOI: 10.1016/0002-9343(69)90146-6. View

Ramot B, Ben-Bassat I, GAFNI D, Zaanoon R . A family with three beta-delta-thalassemia homozygotes. Blood. 1970; 35(2):158-65. View

Stamatoyannopoulos G, Schroeder W, HUISMAN T, Shelton J, Shelton J, Apell G . Nature of foetal haemoglobin in F-thalassaemia. Br J Haematol. 1971; 21(6):633-42. DOI: 10.1111/j.1365-2141.1971.tb02726.x. View

10.

Mann J, MacNeish A, Bannister D, Clegg J, Wood W, Weatherall D . Delta-beta-thalassaemia in a Chinese family. Br J Haematol. 1972; 23(4):393-402. DOI: 10.1111/j.1365-2141.1972.tb07074.x. View

11.

Kattamis C, Karamboula K, Nasika E, Lehmann H . The clinical and haematological findings in children inheriting two types of thalassaemia: high-A2, type beta-thalassaemia, and high-F type or delta beta-thalassaemia. Br J Haematol. 1973; 25(3):375-84. DOI: 10.1111/j.1365-2141.1973.tb01748.x. View

12.

HUISMAN T, Schroeder W, Efremov G, DUMA H, MLADENOVSKI B, Hyman C . The present status of the heterogeneity of fetal hemoglobin in beta-thalassemia: an attempt to unify some observations in thalassemia and related conditions. Ann N Y Acad Sci. 1974; 232(0):107-24. DOI: 10.1111/j.1749-6632.1974.tb20576.x. View

13.

Efremov G, Nikolov N, DUMA H, Schroeder W, Miller A, HUISMAN T . Delta Beta-Thalassaemia in two yugoslavian families. Scand J Haematol. 1975; 14(3):226-32. View

14.

GRIFONI V, Kamuzora H, Lehmann H, Charlesworth D . A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2. Acta Haematol. 1975; 53(6):347-55. DOI: 10.1159/000208204. View

15.

HUISMAN T, Schroeder W, Brodie A, Mayson S, Jakway J . Microchromatography of hemoglobins. II. A simplified procedure for the determination of hemoglobin A2. J Lab Clin Med. 1975; 86(4):700-2. View

16.

Ricco G, Mazza U, Turi R, Pich P, Camaschella C, Saglio G . Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain. Hum Genet. 1976; 32(3):305-13. DOI: 10.1007/BF00295821. View

17.

Ottolenghi S, Comi P, Giglioni B, Tolstoshev P, Lanyon W, Mitchell G . Delta-beta-thalassemia is due to a gene deletion. Cell. 1976; 9(1):71-80. DOI: 10.1016/0092-8674(76)90053-2. View

18.

HUISMAN T, Schroeder W, Reese A, Wilson J, Lam H, Shelton R . The T gamma chain of human fetal hemoglobin at birth and in several abnormal hematologic conditions. Pediatr Res. 1977; 11(10 Pt 2):1102-5. View

19.

Wood W, Clegg J, Weatherall D, Gyde O, Obeid D, Tarlow M . G gamma delta beta thalassaemia and g gamma HPFH (Hb Kenya type): comparison of 2 new cases. J Med Genet. 1977; 14(4):237-44. PMC: 1013575. DOI: 10.1136/jmg.14.4.237. View

20.

Kinney T, Friedman S, Cifuentes E, Kim H, Schwartz E . Variations in globin synthesis in delta-beta-thalassaemia. Br J Haematol. 1978; 38(1):15-22. DOI: 10.1111/j.1365-2141.1978.tb07103.x. View