Literature DB >> 7827210

Clinical heterogeneity of silent-gene b-thalassemia among Indians.

A Nadkarni1, A Pawar, V C Mudera, D Mohanty, R Colah.   

Abstract

This paper describes six Indian families in which silent-gene beta-thalassemia was encountered by us in the past 2 years. This stresses the importance of globin-chain synthesis in the diagnosis of beta-thalassemia. Of these six cases, five were diagnosed retrospectively when they had a homozygous beta-thalassemia offspring. The beta/alpha synthetic ratios ranged from 0.45 to 0.60. Four belong to group-I silent beta-thalassemia and two cases to group II. The severity of thalassemia major in the offspring of these silent carriers cannot be predicted.

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Year:  1995        PMID: 7827210     DOI: 10.1007/bf01715386

Source DB:  PubMed          Journal:  Ann Hematol        ISSN: 0939-5555            Impact factor:   3.673


  12 in total

1.  Studies on abnormal hemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation.

Authors:  K SINGER; A I CHERNOFF; L SINGER
Journal:  Blood       Date:  1951-05       Impact factor: 22.113

2.  A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia.

Authors:  J M Gonzalez-Redondo; T A Stoming; A Kutlar; F Kutlar; K D Lanclos; E F Howard; Y J Fei; M Aksoy; C Altay; A Gurgey
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

3.  The heterogeneity of normal Hb A2-beta thalassaemia in Greece.

Authors:  C Kattamis; A Metaxotou-Mavromati; W G Wood; J R Nash; D J Weatherall
Journal:  Br J Haematol       Date:  1979-05       Impact factor: 6.998

4.  The silent carrier of beta thalassemia.

Authors:  E Schwartz
Journal:  N Engl J Med       Date:  1969-12-11       Impact factor: 91.245

5.  Globin synthesis in thalassemia syndromes among Indians--a preliminary report.

Authors:  R S Pavri; S R Naik; A R Pawar; H M Bhatia
Journal:  Indian J Med Res       Date:  1988-08       Impact factor: 2.375

6.  Genetic studies among the endogamous groups of Lohanas of North and West India.

Authors:  H M Bhatia; S R Shanbagh; A J Baxi; J P Bapat; R S Sharma
Journal:  Hum Hered       Date:  1976       Impact factor: 0.444

7.  Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations.

Authors:  S Murru; G Loudianos; M Deiana; C Camaschella; G V Sciarratta; S Agosti; M I Parodi; P Cerruti; A Cao; M Pirastu
Journal:  Blood       Date:  1991-03-15       Impact factor: 22.113

8.  The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.

Authors:  M S Ristaldi; S Murru; G Loudianos; L Casula; S Porcu; D Pigheddu; B Fanni; G V Sciarratta; S Agosti; M I Parodi
Journal:  Br J Haematol       Date:  1990-04       Impact factor: 6.998

9.  Diagnostic criteria of beta-thalassemia trait: study of 171 parents of patients with Cooley's anaemia.

Authors:  B C Mehta; M B Agarwal; N Kurlekar; D G Varandani
Journal:  J Assoc Physicians India       Date:  1982-02

10.  Different types of beta-thalassemia intermedia. A genetic study in 20 patients.

Authors:  M Aksoy; G Dinçol; S Erdem
Journal:  Acta Haematol       Date:  1978       Impact factor: 2.195

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  2 in total

Review 1.  Beta-thalassemias: expression, molecular mechanisms and mutations in Indians.

Authors:  R Colah; D Mohanty
Journal:  Indian J Pediatr       Date:  1998 Nov-Dec       Impact factor: 1.967

Review 2.  Past, present & future scenario of thalassaemic care & control in India.

Authors:  Ishwar C Verma; Renu Saxena; Sudha Kohli
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

  2 in total

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