Brain, Peter

Budtz-Olsen, O.E.

English

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Suid,Afrikaanse Tydskrif vir GeneeskundeSouth African Medical JournalPosbus 643, Kaapstad P.O. Box 643, Cape TownKaapstad, 31 Mei 1958Weekliks 2s. 6d. Vol. 32 No. 22Cape Town, 31 May 1958Weekly 2s. 6d.THALASSAEMIA-HAEMOGLOBI E DISEASE I A CAPE COLOURED FAMILYPETER BRAIN, M.D., East London, South Africa and O. E. BUDTZ-OLSEN, M.D., Brisbane, AustraliaIn 1952 Budtz-Olsen and Woolf1 described a Cape Colouredfamily whom they thought to be suffering from thalassaemia(Cooley's anaemia). With the knowledge then available theauthors found it difficult to give a genetically satisfactoryexplanation of the varying severity of the disease in differentmembers of the family. Blood from members of thi familyhas now been re-examined with the help of paper electro-phoresis, and it has been shown that the more severelyaffected children are suffering from thalassaemia-haemo-globin E disease. This was first described in 1954 by Chernoffet aP and later by Sturgeon et al. 3MATERIALFig. I shows the pedigree, with the electrophoretic patternsadded. The mother, o. 1, was of Cape Coloured stock. Thisis a mixed people descended from Europeans, Hottentots,Bushmen and Asians, with very little negro admixture. Hermother, since dead, was examined by Budtz-Olsen and Woolfand correctly regared as having thalassaemia minor. Thefather of the family ( o. 2) was a Cape Malay; these Malayare descended from Eastern slaves, not necessarily fromMalaya. He died of heart disea e ome year ago, but it isclear from the findings that he mu t have been the bearerof the haemoglobin E trait; his relation could not be traced.Blood wa taken from o. 3, the eldest child, only after hehad received a large transfusion, which added haemoglobin Ato the electrophoretic pattern.Electrophoresis of haemoglobin was carried out as de -cribed by Brain.4 The presence of alkali-re istant (F) haemo-globin was confirmed by denaturation (Singer et al. 5 ). Theother findings are from the paper of Budtz-Ol en and Woolf.The identity of the haemoglobin E wa confirmed by Dr. H.Lehmann of SI. Bartholomew s Hospital, and by the lateDr. Karl Singer of Chicago.RESULTSFig. I and Table I show the pertinent findings, and illustra-tions will be found in the paper of Budtz-Olsen and Woolf.16\ T>-iAL,lSSAEMIA.,; MI OR1FEo ORM.....L() E-TRAlT• TH - E DISEASEEFOW DEADA2J----.-------1 -.-AAFig. I. Pedigree with electrophoretic patterns. The haemoglobin has been applied at the top of eachstrip and migration has taken place downwards towards the anode.553554 .A. IEDICAL JOURNAL 31 May 195In this family, a mating between a woman with thalassaemiaminor and a man with the haemoglobin E trait ha producedin the 7 children every pos ible genetic combination-normal(1 o. 4), thala saemia minor ( ro. 7), E-trait ( 10 . 5), andthala aemia-haemoglobin E disease ( o. 3, 6, and 9).The clinical manifestations of thalas aemia-hae~oglobinETABLE l. FINDlNfJS I THE AFFEClED FA~IILY.. ~.. ." c.~ ~ E <; j-f" ~ OB ~< ~ ~ € ~ .~ ~.g Dia~1l05;j'" "" t· t· ... ~ 1:t-~ ... " ~~:2 " i: .~ .. ~ ~:-s ~ ~~~ l: ~ " ..~ " .;; i .. " x:z: -< 0::":::'I. 11·8 + A Thalassaemia minor3. 2·8 t , " EFA Th.-Hb.E diseaseafter transfusion4. 12·2 A annal5. 13·9 AE E-trait6. 9·3 + -t-+- -t.+ EF Th.-Hb.E disease7. 9·6 + -I + 'r + A Thalassaemia minor8. 5·9 - r + +,- ++ ++ EF Th.-Hb.E disease9. 7·8 T ,- + ++ T r "T-+ EF Th.-Hb.E dise<1sedisea e are much the same in the 4 cases, and agree closelywith those de cribed by Chernoff et at! All 4 were of stuntedgrowth with mongoloid features. The pleens were enlargedand hard, in one case ( 10 . 3) reaching down to the anteriorsuperior iliac spine. one howed obvious jaundice, buturobilin wa occasionally found in the urine of o. 3. Thigirl, who in 1954 wa 24 years old and had needed tran fu-ions 2-3 time a year for the preceding 4 years, also had aper istent granulating ulcer over the lower part of the lefttibia. X-ray examination showed generalized osteoporosis inthe three subjects examined, but none had the 'hair-on-end'appearance of the skull. The picture of the peripheral bloodwas indistinguishable from that in thalassaemia major. Thebone marrow of '0. 3 wa examined and showed a consider-able increa e in erythropoie i with a preponderence ofnormobla ts. All the subject were negative for sickling.Thalas aemia-haemoglobin E disease is thu clinically andhaematologically (unless the haemoglobin is examined) in-di tinguishable from thala saemja major, though perhaprather less severe. Wherea in thalas aemia major the haemo-globin consists principally of F (foetal) with some (adult)and no E, in thalas aemja-haemoglobin E disea e it is madeup of E and F components. The difference in electrophoreticmobility between haemoglobins F and A is well hown inthe adjacent trips 5 and 6, representing the symptomlessE-trait (haemoglobins E and A) and thalassaemia-haemo-globin E disease (E and F).DISCUSSIOHaemoglobin E is relatively common in some orientalpeoples, such as Thailanders! Burmese6 and Indonesians. 7Thalassaemia also is common, at least in Thailand. TheColoured population of Cape Town contains a con iderableoriental Malay' element, and the father of the family heredescribed was in fact of 'Malay' extraction. Haemoglobin E,however, is not often found among the Coloured population.No example of it was seen in an electrophoretic study of430 subject, including 'Malays' (Brain" with additions).Thalassaemia, in its major form at any rate, is very rare inthi population. Thalassaemia-haemoglobin E disease istherefore certainly very uncommon in South Africa.lthough in Fig. I, for the convenience of drawing, thegene for thalassaemja and for haemoglobin E are show!l as ifaUelomorphs, this is not SO.8," The subjects with thalas-saemia-haemoglobin E disea e de cribed here are in factdouble heterozygotes. The combination of thalassaemiawith homozygous haemoglobin E has recently been des-cribed from Thailand."We are grateful to Drs. S. Friedlander, D. M. Krikler andC. P. Retief for assistance. Dr. H. Lehmann and the late Dr.Karl Singer kindly examined the haemoglobin of case 3. One ofus (P.B.) received a grant from the Dr. C. L. Herman Fund of theUniversity of Cape Town.REFERE CESI. Budtz-Olsen, O. E. and Woolr, C. R. (1952): S. Arr. Med. l., 26, 49.2. Chernoff, A. I., Minnich, V. and Chongchareonsuk, S. (1954): Science, 120,605.3. Sturgeon, P., ltano, H. A and Bergren, W. R. (1955): Blood, 10,396.4. Brain. P. (1955): Nature, London, 175,262.5. Singer, K., Chernoff, A. I. and Singer, L. (1951): Blood. 6, 413.6. Lehmann, H., Story. P. and Thein, H. (1956): Brit. Med. l., 1,544.7. Lie-Inju Luan Eng. (1955): Nature. London, 176,469.8. Ita no. H. A. (1953): Amer. l. Hum. Genet., 5,34.9. a· akorn, S. and Minnich, . (1957): Blood, 12,529.BOOKS RECEIVED : BOEKE Or"l'TVANGCleft Palate and Speech. 4th Edition. By Muriel E. Morley,M.Sc., F.C.S.T. Pp. xx+271. 6 Figures. 27s. 6<1. net+1 . 5d Postage broad. Edinburgh and London: E. &. S.Livingstone Ltd. 1958.Physical Dynamics of Character Struclllre. Bodily Form andMovement in Analytic Therapy. By Alexander Lowen,M.D. Pp.x+358. 18 Figures. 7.75. ew York and1.ondon:Grone & Stratton, Inc. 1958.Dynamics of Psychotherapy. The P ychology of Per onalityChange. Volume Ill. Procedure. By Percival M. Symond ,Ph.D. Pp. xxxv + 607. 6.50. ew York and London:Grune & Stratton, Inc. 195 .HUlllan Infertility. By C. Lee Buxton, M.D., ed. Sc.D. andAnna L. Southam, M.D. With a Chapter on EndometrialDiagnosis by Earl T. Engle, Ph.D. Pp. x+229. 43 Figure.7.50. ew York:'P. B. Hoeber, Inc. 19- .Neuropathology. By J. G. Greenfield, M.D., F.R.C.P., LL.D.,W. BIackwood, .B., Ch.B., F.R.C. .E., M.R.C.P.E.,W. H. McMenemey, M.A., D.M., F.R.C.P., . Meuer, M.D.,and R. M. orman, M.D., M.R.C.P., D.P.M. Pp. vi +640.Jlluslrations. £5 5 . Od. London: Edward Arnold (Pub-lishers) Ltd. 1958.AUlonomic Dyspraxia. An Hypothesis for the Mechanism ofPsycho i, eurosis and Psychosomatic Disease. By Brian G.Haynes, M.B., B.S., M.R.C.P. Pp. viii+122. 15s. net.London: H. K. Le\vis & Co. Ltd. 1958.Surgery in Infancy and Childhood. A Handbook for MedicalStudents and General Practitioners. By Matthew White,MA, M.B., Ch.B., F.R.F.P.S. (Glas.), F.R.C.S. (Edin.) andWallace M. Dennison, M.D., FR.FP.S. (Glas.), FR.C.S.(Edin.), F.I.C.S. Pp. xii+444. 266 Figures. 45s. net+2s. Id.Post.age Abroad. Edinburgh and London: E. & S. Living-swne Ltd. 1958.Modern Trends in Gastro-Enterology. (Second Series). Editedby F Avery lones, M.D., F.R.C.P. Pp. xix+416+(23).143 Figures. 84s. 6d.+ls. lId. London: Butterworth & Co.(Publishers) Ltd. South African Office: Butterworth & Co.(Africa) Ltd., P.O. Box 792, Durban. 1958.Modern Trends in Endocrinology. Edited by H. Gardiner-Hill.M.D., F.R.C.P. Pp. ix 29 ~(I3). 15 Figures. 73.+1. 7d.London: Butterworth & Co. (Publishers) Ltd. South AfricanOffice: Butterworth & Co. (Africa) Ltd., P.O. Box 792,Durban. 1958.

Thalassaemia-haemoglobin E disease in a Cape coloured family

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Thalassaemia-haemoglobin E disease in a Cape coloured family

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