Literature DB >> 15735168

An Ashkenazi Jewish woman presenting with favism.

F Lim1, T Vulliamy, S H Abdalla.   

Abstract

The case of a 44 year old Ashkenazi Jewish woman of Russian origin who presented with a typical clinical and haematological picture of favism is reported. There was initial difficulty in confirming glucose-6-phosphate dehydrogenase (G6PD) deficiency because the enzyme concentrations were normal at presentation, but later fell to a concentration compatible with heterozygosity for the Mediterranean type of G6PD deficiency. The diagnosis was also later confirmed by gene analysis. The reasons for the difficulties in the initial confirmation of the diagnosis and the normal G6PD enzyme activity at presentation are discussed.

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Year:  2005        PMID: 15735168      PMCID: PMC1770591          DOI: 10.1136/jcp.2004.017426

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


  7 in total

1.  MORPHOLOGICAL DEMONSTRATION OF 2 RED CELL POPULATIONS IN HUMAN FEMALES HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY.

Authors:  O TOENZ; E ROSSI
Journal:  Nature       Date:  1964-05-09       Impact factor: 49.962

2.  On the diagnosis of erythrocyte enzyme defects in the presence of high reticulocyte counts.

Authors:  M Lakomek; W Schröter; G De Maeyer; H Winkler
Journal:  Br J Haematol       Date:  1989-07       Impact factor: 6.998

Review 3.  Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group.

Authors: 
Journal:  World Health Organ Tech Rep Ser       Date:  1967

4.  In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency.

Authors:  S Piomelli; L M Corash; D D Davenport; J Miraglia; E L Amorosi
Journal:  J Clin Invest       Date:  1968-04       Impact factor: 14.808

Review 5.  Glucose-6-phosphate dehydrogenase deficiency.

Authors:  A Mehta; P J Mason; T J Vulliamy
Journal:  Baillieres Best Pract Res Clin Haematol       Date:  2000-03

Review 6.  Favism in a female newborn infant whose mother ingested fava beans before delivery.

Authors:  C Corchia; A Balata; G F Meloni; T Meloni
Journal:  J Pediatr       Date:  1995-11       Impact factor: 4.406

7.  Structural variants of human glucose 6-phosphate dehydrogenase (G6PD): role of intracellular decay in the expression of deficiency.

Authors:  A De Flora; A Morelli; U Benatti
Journal:  Biomed Biochim Acta       Date:  1983
  7 in total
  4 in total

1.  Favism: A Case Report.

Authors:  Andreia Diegues; Pedro Simões; Tiago Ceriz; Ana Rita Lopes; Elisa Tomé
Journal:  Cureus       Date:  2022-03-17

2.  Glucose-6-phosphate dehydrogenase deficiency: not exclusively in males.

Authors:  Leonie van den Broek; Evelien Heylen; Machiel van den Akker
Journal:  Clin Case Rep       Date:  2016-10-24

3.  High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.

Authors:  Md Tarikul Islam; Suprovath Kumar Sarker; Shezote Talukder; Golam Sarower Bhuyan; Asifuzzaman Rahat; Nafisa Nawal Islam; Hasan Mahmud; Mohammad Amir Hossain; A K M Muraduzzaman; Jakia Rahman; Syeda Kashfi Qadri; Mohammod Shahidullah; Mohammad Abdul Mannan; Sarabon Tahura; Manzoor Hussain; Narayan Saha; Shahida Akhter; Nazmun Nahar; Firoza Begum; Tahmina Shirin; Sharif Akhteruzzaman; Syed Saleheen Qadri; Firdausi Qadri; Kaiissar Mannoor
Journal:  BMC Genet       Date:  2018-08-10       Impact factor: 2.797

4.  Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates.

Authors:  Khalid K Abdul-Razzak; Enaam M Almomany; Mohamad K Nusier; Ahmad D Obediat; Ahmad M Salim
Journal:  Ger Med Sci       Date:  2008-09-24
  4 in total

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