734 S.A. MEDICAL JOURNAL 12 September 1964

public at large, that an alcoholic is a sick man and worthy of present building which has served well these 7 years is rapidly saving, is reflected by the steady increase in the number of coming to the end of its useful life and earnest consideration inpatients treated at the Castle Carey Clinic (Table I). must be given to a new building for the clinic which has become a symbol of hope and help for so many alcoholic TABLE I. UMBER OF PATIENTS TREATED patients throughout the Republic. Duration of treatment Men Women Total in days 1958 245 245 7-10 It is a pleasure to pay tribute to the Superintendent, Mr. 1959 196 196 10 A. J. Pienaar, upon whose shoulders have rested for so long 1960 219 219 10-14 1961 271 271 10-14 the responsibility for the growth of Castle Carey; the nursing April 1962-March 1963 279 54 333 10-14 and other members of the Clinic who have so willingly co­ April 1963-March 1964 326 72 398 15 operated in achieving the aims of SANCA; and the numerous Total: 1,536 126 1,662 ex-patients who have proved that success can be attained. As we look forward to future planning for the clinic, REFERENCE serious thought must be given to providing new premises. The Kiessen, M. D. (1961): Quart. J. Stud. Alcohol, ovember.

GENETIC MARKERS IN LIVER * H. GORDON, B.Se., M.D., M.R.C.P.; MARGARET ROBERTSON, M.B., CH.B.; J. M. BLAIR, PH.D.; AND MARRIE VOOIJS, Comprehensive Medicine Group and UCTI NIH Ecology of Hypertension Research Project, Department of Medicine, University of Cape Town

As part of a programme of research into the ecology of hyper­ TABLE I:HAPTOGLOBIN FREQUENCIES tension in Cape Town's racial groups, an attempt is being Hospital series Hpl Hp' Absent haptoglobin (%) White '39 ·61 made to characterize these racial groups in terms of their gene Malay .. '33 '67 frequencies. For this purpose a number of 'genetic markers' Cape Coloured '39 ·61 are being studied in members of the 4 main ethnic groups: African '56 '44 White, African, Cape Coloured and Cape Malay. The genetic haptoglobins (0·25%). In the liver series, 17 patients had absent markers which are under investigation include several blood haptoglobins (34%). It will be seen from Table ill that in the group systems, certain serum-protein components and enzymes liver series, haptoglobins were absent in members of all 4 and a number of physical traits (pTC tasting, colour vision, racial groups. etc.). A variety of other constitutional characteristics are also being examined. TABLE 11. HAPTOGLOBIN PHE 'OTYPES To start with, blood samples were collected from adult (pERCENTAGE DISTRIBUTION) patients in Groote Schuur Hospital. Patients who had recently Hospital series Liver received blood transfusions, those with haemoglobin levels of White Malay Coloured African disease less than 11·0 G per 100 ml...and those known to have liver Number lOO lOO lOO lOO 50 I-I 18 13 16 34 18 disease were excluded. The material included 100 patients 1-2 43 41 46 43 26 from each of the 4 racial groups and they were drawn from 2-2 39 46 38 22 22 all the wards of the hospital ('hospital series'). Absent 0 0 0 I 34 In addition, blood samples were collected from 50 patients­ irrespective of race-with diffuse hepato-cellular disease. This In a few of the liver patients, it was possible to do repeated 'liver disease' series included 16 Whites, 16 Africans, 16 Cape examinations of the haptoglobin pattern. There were 2 Coloureds and 2 Cape Malays. The causes of the liver disease Coloured patients with severe viral hepatitis in whom the included alcoholic cirrhosis (28 cases), cryptogenic cirrhosis (9 haptoglobins were initially absent As the disease subsided, a cases), cardiac cirrhosis (4 cases), biliary cirrhosis (2 cases) and 2: 2 and a 2: 1 haptoglobin pattern appeared in their sera. A viral hepatitis (7 cases). TABLE Ill. HAPTOGLOBIN PHENOTYPES: LIVER DISEASE The 'liver disease' series was analysed separately in order White Malay Coloured African Total to determine whether the presence of liver disease interfered Number 16 2 16 16 50 with the expression of the genotype particularly with respect to I-I 2 0 2 5 9 (18 %) 1-2 5 0 5 3 13 (26%) the serum-protein components (haptoglobins, transferrins and 2-2 5 0 4 2 II (22%) haemoglobins) and the enzymes (glucose-6-phosphate dehydro­ Absent 4 2 5 6 17 (34%) genase and serum cholinesterase). This was relevant to our general survey of genetic markers because it has frequently White patient with alcoholic cirrhosis of the liver was found to been reported that absence of haptoglobins is common in have a 2: 2 pattern when he first came to hospital; when his African populations. While this phenomenon is widely re­ condition deteriorated, his haptoglobins disappeared. garded as an African 'genetic' trait, we suspected that some­ There seems little doubt that, in many cases, absent hapto­ times it may be an acquired characteristic secondary to liver globin is an acquired characteristic and that liver disease is disease. one of the causes of absent haptoglobin bands on starch-gel electrophoresis. Particularly when studying African popula­ Results tions, in whom liver disease is quite common, this fact must Some of the findings in this preliminary survey are summa­ be taken into account before absent haptoglobins can be rized in this paper. assumed to be a genetic trait. 1. Serum haptoglobin phenotypes were assayed by starch­ 2. Transferrin phenotypes were also determined by starch­ gel electrophoresis. The results are shown in Table I. No gel electrophoresis. The findings are shown in Table IV. In conclusions about racial affinities and differences should be this investigation there was nothing unusual about the distribu­ drawn from this series of hospital patients, but it may be noted tion of transferrin phenotypes in patients with liver disease. that in general the HpI and Hp\! gene frequencies in Africans 3. Haemoglobin phenotypes were characterized by electro­ and Whites follow the pattern reported from other parts of phoresis on cellulose acetate. In this investigation only 3 the world, i.e. a relative deficiency of Hp\! in Africans com­ patients with abnormal haemoglobins were detected (2 Whites pared with Whites. In Table IT the percentage distribution of and I Malay). There were no abnormal haemoglobins in the the haptoglobin phenotypes is shown for the general hospital liver series. series and for the liver-disease group. In the hospital series, 4. Glucose-6-phosphate dehydrogenase activity was deter­ only one patient in 400 (an African) was found with absent mined by the method of Motulsky and Campbell. There were •Abstract of a paper presented at a meeting of Research Forum, Univer­ only 2 patients (a Coloured and an African) with deficiency of sity of Cape Town, held on 2 April 1964. this enzyme; neither of them had liver disease. 12 September 1964 S.A. TYDSKRIF VIR GENEESKUNDE 735

TABLE IV. TRANSFERRIN PHE 'OTYPES relatively low frequency of the 'unusual' variants in the non­ (PERCENTAGE DISTRIBUTlO ') White members vf the hospital series is noteworthy but the Hospital series Lirer significance of this finding in a selected sample is doubtful. 0 White Ma/ay Coloured African diseast! The relatively high (16 0 ) of 'unusual' variants in Number lOO lOO lOO lOO 50 the liver series compared with the hospital series (2·5%) is CD, I 2 3 6 4 C. 98 98 97 94 96 significant. It may indicate that there is abnormal serum B.C I o o o o cholinesterase production in patients with liver disease or that liver disease is more common in people who have inherited TABLE V. SERUM CHOLINESTERASE PHENOTYPES (pERCENTAGE DISTRlBUTlON) unusual cholinesterases. Hospital series Li}'(~r These studies are being extended to include other genetic White Ma/ay Coloured African disease markers and the tests are being applied to unselected members Number lOO lOO lOO lOO 50 of these 4 racial groups in the general population Usual 94 99 98 99 84 Unusual 6 I 2 I 16 This investigation was supported by a generous grant (HE­ 5. Serum cholinesterase phenotypes. The method of Harris 06267) from the National Institutes of of the Public and Robson was used. The findings are set out in Table V. The Health Service of the USA.

45th SOUTH AFRICAN MEDICAL CONGRESS (M.A.S.A.}--PORT ELIZABETH PRELIMINARY INFORMATION 2. Notify the Secretary- (a) as soon as possible if you are attending and if you Date: 27 June - 3 July 1965 wish to read a paper. Venue: Port Elizabeth (b) of any special arrangements you want made for Group Address of The 45th South African Medical Congress, Meetings, Re-union lunches and dinners. Congress Office: 603 Oasim, Pearson Street, Port Elizabeth (c) if you wish to exhibit at the Scientific or Hobbies (P.O. Box 88) Exhibition and what your requirements will be. The Secretary: Dr. J. B. Nel (d) if you wish to enter for the Film Festival.

THE PROVISIONAL SCIENTIFIC PROGRAMME 3. Address all correspondence to the Secretary. Sunday 27 June 3 - 5 p.m. Registration FILM COMPETITlO Public Lecture 8 p.m.-City Hall A special competition will be judged at Congress for South Monday 28 June Morning: Registration African-made films of medical interest, produced by amateurs. Morning: Sectional meetings Depending on entries, four categories will be recognized: Afternoon: Sectional meetings 16 mm. silent and sound, and 8 mm. silent and sound. Evening: Official opening of Congress Tuesday 29 June Morning: Plenary Session Afternoon: Sectional meetings I rIENTION FORM* Wednesday 30 June Morning: Sectional meetings Afternoon: Sectional meetings Name. Thursday 1 July Morning: Sectional meetings Afternoon: Sports Address Friday 2 July Morning: Plenary Session Afternoon: Sectional meetings Saturday 3 July Morning: Sectional meetings I. I shall be accompanied by my Wife/ FOR YOUR CONVENIENCE Family yes /No . The Official Travel and Accommodation Agents are the S.A.R. Travel & Publicity Bureau. The Standard Bank will operate at 2. I require accommodation yes .jNo . the Congress Centre. 3. I have my own transport yes /No . LADIES' PROGRAMME 4. I require travel arrangements made yes /No . Monday 28th 6 p.m.: Mayoral Reception 5. I intend submitting a paper yes /No . Tuesday 29th 7 p.m.: Official Dinner (Wives are cordially invited) 6. I intend exhibiting at the Scientific Exhibition yes /No . Wednesday 30th 8 p.m.: Bridge Pairs Tournament with Trophy 7. I intend exhibiting at the Hobbies Exhibition yes .jNo....• Thursday 31st 2 p.m.: Campbell-Watt Golf Trophy 2 p.m.: Arranged Tours 8. I intend competing in the Film Festival yes .j 0 ...• 8 p.m.: Supper Dance 9. I require further information on . All Week: Hobbies Exhibition, Scientific Exhibition, Trade Exhibition, Films, Sport, i.e. Golf, Fishing, Tennis, Bowls, Racing, Ladies enter­ tainment and, of course, Haig-the dolphin. . -._..-.._- - - _._ _...... •...... FOR YOUR NOTEBOOK *Please complete and return to the Secretary as soon as I. Book your accommodation early-The S.A.R. Publicity & possible. Travel Bureau have already reserved accommodation. 11