G6PD Deficiency in Ghanaians: How to recognise it

G6PD Deficiency in Ghanaians: How to recognise it  

In their instructive seminar Professors Capellini and Fiorelli put Africa first in the list of areas with the “highest frequencies of G6PD deficiency” (Jan 5, p 64) [1], so what are the Ghanaian associations?

(i) “Dorkita, I’m passing coca cola urine”. Mist alba, septrin, fansidar, chloramphenicol, APC, are the greatest offenders [2].

(ii) Typhoid disease [3 4]

(iii) lobar pneumonia with jaundice [2 4]

(iv) Renal failure [5](v) No enzyme-at-all in 5% G-6-P-D deficient males [6]

(vi) Greater delay in recovery from coma [7]

(vii) Greater representation in Cirrhosis of the liver [7]

(viii) Greater proportion of diabetics [7]

(ix) Sickle cell disease patients fare worse [8 9 10]

(x) Female homozygotes (X-X-) have more severe disease than hemizygotes (X-Y), making me wonder “how that can be reconciled with the Lyon hypothesis of inactivation of one X chromosome” [10, page 105]

(xi) Periodic intravascular haemolysis from interaction between “alpha thalassaemia type 1 equivalent to African homozygous alpha thalassaemia type 2, with G-6PD Total deficiency” [11]. Exercise acts as a trigger. The combination per se does not appear to account for the hyperbilirubinaemia in babies [All cases of ‘march haemoglobinuria’ must be screened for both alpha thalassaemia and G-6PD deficiency].

(xii) The enzyme is found in liver, brain, kidney, adrenals, skin, pancreas, nerve and muscle, hence the extra-erythrocytic manifestations of G6PD deficiency. Bedu-Addo’s description of chloroquine induced bilateral ptosis [12] could have been in one with no enzyme.

(xiii) Hepatomegaly with quick progression to cirrhosis [7]. (xiv) Viral Hepatitis is commoner in G6PD deficient patients, and characterised by intrahepatic cholestasis [13]. (xv) Terminology of A-minus (attributed to Africans) and B-minus (Mediterranean)is meaningless, as in A-minus Ghanaians “absence of enzyme in new red cells” produces cases “similar to the Mediterranean type of total deficiency” [6]

(xvi) There is an inexplicable north-south divide of incidence: 11% of males are deficient in the north [14] while 23% have G6PD deficiency in the south [15].

(xvii) Protection against malaria has not been proved in Ghana for hemizygotes and female homozygotes [7]. Indeed, blackwater fever is often related to G6PDdeficiency

(xviii) “Sabolaa  kε Emanbii yi” is a truism in my Krobo tribe: “Onions and M&B disagree” [16]. In the Colonial days some who took sulphonamides (‘M&B’) for infections fell gravely ill on eating onions. Dipropyl disulphide in onions “alters G6PD in the metabolic chain within the erythrocytes, which causes denaturing and precipitation of haemoglobin” [17].

(xix) Genetic Counselling goes beyond haemoglobinopathy to erythrocytopathy. A G6PD deficient sickle cell trait mother (AS) has two healthy daughters with her sickle cell trait (AS) husband, and they seek advice for a third pregnancy hoping to get a boy. She is told that although neither daughter has inherited her deficiency, and both avoided sickle cell anaemia (SS), her next child could be SS with G6PD deficiency (severe if a boy) [18]

(xx) Voluntary family size limitation (VFSL) [19] is the advice I give hemizygotes who (in Africa) have a high male procreative superiority index (MPSI) [20] in that males have more children than females, with consequent greater donation of abnormal genes to the next generation.

I declare that I have no conflict of interest Felix I D Konotey-Ahulu 

felix@konotey-ahulu.com

10 Harley Street, London W1G 9PF, UK

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10      Konotey-Ahulu FID. The sickle cell disease patient: natural history from a clinico-epidemiological study  of 1550 patients of Korle Bu Hospital Sickle Cell Clinic. London: Macmillan 1992; Watford: Tetteh- A’Domeno Co 1996.

11   Konotey-Ahulu FID. Alpha thalassaemia nomenclature and abnormal haemoglobins. Lancet 1984; 1: 1024-1025

12   Bedu-Addo G. Chloroquine induced bilateral ptosis. Trans Roy Soc Trop Med Hyg 2006; 100: 696-697.

13      Morrow RH, Smetana HF, Sai FT, Edgecomb JH. Unusual features of viral hepatitis in Accra, Ghana. Ann Intern Med 1968; 68: 1250-1264.

14   Ringelhann B, Dodu SRA, Konotey-Ahulu FID, Lehmann H. A survey for haemoglobin variants, thalassaemia and Glucose-6-phosphate ehydrogenase deficiency in northern Ghana. Ghana Med J 1968; 7: 120-124.

15      Owusu SK, Opare-Mante A. Electrophoretic characterization of glucose-6-phosphate dehydrogenase (G6PD) enzyme in Ghana.  Ghana Medical Journal 1972; 11: 304.

16   Konotey-Ahulu FID. Probing anecdotes in traditional African therapeutics. African Journal of Health  Sciences 1194; 1: 53-56.

17      Fenwick G, Hanley AB. The genus Allium – Part 3 Section X Medicinal Effects. CRC Critical Reviews in Food Science and Nutrition 1985; 23: 1-73.

18      Konotey-Ahulu FID. Missing the wood for one genetic tree? In, The First International Symposium on the Role of Recombinant DNA in Genetics. Proceedings, Chanai, Crete – Greece, May 13 -16, 1985. Eds Loukopoulos D, Teplitz R. Athens, P Paschalidis 1986, pages 105-116.

19      Konotey-Ahulu FID.  The male procreative superiority index (MPSI): its relevance to genetical counselling in Africa. In: Eds, Oliver Mayo, Carolyn Leach. Fifty Years of Human Genetics. A Festschrift and liber amicorum to celebrate the life and work of George Robert Fraser. South Australia,                 Wakefield Press, August 2007 pages 48-50.

20    Konotey-Ahulu FID. Need for ethnic experts to tackle genetic public health. Lancet 2007; 370: 1826-27.