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J Med Genet: first published as 10.1136/jmg.6.3.286 on 1 September 1969. Downloaded from J. med. Genet. (1969). 6, 286. G6PD Deficiency and Favism in the Island of Rhodes (Greece)* CHRISTOS A. KATTAMISt, ATHANASIOS CHAIDAS, and STAVROS CHAIDAS From the Department of Paediatrics, University of Athens, and the Haemolytic Anaemias Unit, Choremis Research Laboratory, St. Sophie's Children's Hospital, Athens 608, Greece Glucose-6-phosphate dehydrogenase (G6PD) de- faba from one area to another. Rhodes was selec- ficiency is commonly encountered in Greece, but its ted, as it was known that in this island both favism distribution is uneven. Incidences ranging in the and G6PD deficiency were relatively common. We male population from 1 % to more than 30% were de- studied: (a) the frequency and geographical dis- scribed. As a rule high incidences were found in areas tribution of G6PD deficiency in the island; (b) the where malaria had been hyperendemic in the past prevalence of favism among deficient individuals; (Zannos-Mariolea and Kattamis, 1961; Choremis, and (c) the geographical distribution of favism and Zannos-Mariolea, and Kattamis, 1962; Choremis et its relation to that of G6PD deficiency. al., 1963; Fraser et al., 1963; Allison et al., 1963; Stamatoyannopoulos and Fessas, 1964; Stama- toyannopoulos, Panayotopoulos, and Motulsky, Material and Methods 1966b). Rhodes is the main island of the Dodecanese at the The most common variant of G6PD deficiency remote North East region of the Aegean Sea. It has an copyright. shown so far is the severe Mediterranean type, area of 1404 square kilometres and a population of though some isolated instances 56,819; it consists mainly of lowlands and semimoun- of other rare vari- tainous areas (200-700 m.), with only a small mountainous ants have also been reported (Kattamis, 1963; region above 700 m. A mountain range divides the Stamatoyannopoulos, Panayotopoulos, and Papa- island into two regions, the north and the south. yannopoulou, 1964). The severe Mediterranean Before 1946 (when the national malaria control pro- type is the main enzymatic variant which has been gramme was introduced) malaria used to be prevalent in incriminated for the pathogenesis of favism (Kat- Rhodes. At present the disease has been completely tamis, eradicated. Kyriazakou, and Chaidas, 1969) and severe http://jmg.bmj.com/ neonatal jaundice (Doxiadis et al., 1961). A total of 709 schoolboys, aged 10-16 years, were studied under the following 3 groups. In this country favism is the commonest type of acute haemolytic anaemia and it is usually found in Group I: 451 boys from all over the island, represent- areas with a high incidence of enzyme deficiency. ing 2-3% of the total male population. Clinical observations suggest that favism, though occurring in these areas, is surprisingly rare con- Group H: 187 boys from selected areas which were sidering the number of people at risk, and the chosen either for their high incidence ofG6PD deficiency, frequency of exposure to Vicia faba; they also indi- group A (villages of Kremasti and Archangelos), or be- on October 1, 2021 by guest. Protected cate that favism is not always proportional to the cause they were known to local physicians for their high frequency of G6PD deficiency (C. Kattamis, un- incidence of favism, group B (Sianna, St. Isidoros, published data). Laerma). The present investigation was undertaken to elu- Group m: 71 boys representing 3-5% of the male cidate the relation of favism to G6PD deficiency as population of the Turkish minority ofthe island. well as the variability which may exist in the sus- For each person examined, the exact place of origin of ceptibility of sensitive individuals exposed to Vicia the mother and her ancestors was recorded, and data concerning favism and drug sensitivity were collected. The parents of all 143 detected Received December 24, 1968. deficient males were * Supported in part by Grant 743 from the Royal Hellenic Re- retrospectively questioned about the frequency and search Foundation. approximate quantity of fava beans ingested by their t In receipt of a WHO Exchange Workers Grant. child, and the type and degree of any untoward effect 286 J Med Genet: first published as 10.1136/jmg.6.3.286 on 1 September 1969. Downloaded from G6PD Deficiency and Favism in the Island of Rhodes (Greece) 287 which this ingestion evoked. The diagnosis of favism TABLE II was accepted only when severe general distress, pallor, G6PD DEFICIENCY IN LOWLAND AND SEMI- jaundice, and gross haemoglobinuria occurred after MOUNTAINOUS AREAS OF THE NORTH AND exposure to Vicia faba. SOUTH REGIONS OF RHODES An approximate index of the geographical distribu- Prevalence tion of favism based on the prevalence of the disease in No. of Male No. of G6PD the population of various areas of the island was ob- Main Areas Examined Population Deficient Deficiency tained by analysing the data of 121 patients with favism treated at the Children's Department of the General North region Lowland 181 10 31 16-9 Hospital of Rhodes in the years 1952-1965. These Semi- patients were also used to study the differences in sus- mountainous 31 19 4 12-9 ceptibility of deficient individuals in various areas, by Total 214 1-1 35 16-3 comparing the morbidity rate of the disease in the ex- South region pected male deficient and sensitive populations of the Lowland 197 4-4 56 28-4 area; this theoretically was the population at risk. Semi- Venous blood (5-6 ml.) was collected in ACD mixture mountainous . 40 2-0 9 22-5 for a series of haematological investigations. G6PD Total 237 3-1 65 27-4 activity was determined by the brilliant cresyl blue (BCB) decolorization test (Motulsky and Campbell- Kraut, 1961). Samples decolorizing in 30-70 minutes were considered normal, those between 70 and 150 TABLE III minutes were suspect, and above 150 minutes they were deficient. These criteria were slightly different from G6PD DEFICIENCY IN SELECTED AREAS those used in some of our previous studies (Zannos- Mariolea and Kattamis, 1961; Prevalence Choremis et al., 1962, No. 0O of Male No. of G6PD 1963). All deficient and suspect samples were re- Villages Examined Population Deficient Deficiency examined two or three times, and the G6PD activity was (°o) assayed by the method of Zinkham, Lenhard, and Childs Group A (1958). In a number of cases the methaemoglobin reduc- Kremasti 49 5-0 17 34-7 Archangelos 132 10-0 28 21-2 copyright. tion test (Brewer, Tarlov, and Alving, 1960) was also Group B applied. Sianna 24 13-6 8 33-3 St. Isidoros 53 10-7 10 18-8 Laerma 40 12-6 14 35 0 Results G6PD Deficiency. The incidence of G6PD deficiency in the total male population was 24 6%. Minor differences are shown in Table I, and were areas compared to the lowland regions, in either the observed between the general sample (22 2%) and north (129%: 1699%) or the south (22.5%:28.4%0) the selected sample (25 8%). were not statistically significant (p < 0-5). http://jmg.bmj.com/ Enzymic deficiency was rare (2 8%b) among the There were certain foci with high frequencies of Turkish minority of the island. enzymic deficiency. Two of them, Kremasti and The distribution of G6PD deficiency in the island Archangelos (group A), were further investigated, is shown in Table II. The frequency in the south together with the villages of Sianna, St. Isidoros, (27-4%) differs significantly from that in the north and Laerma (group B) which were already known (163%) (x2=799, 1 d.f., p<001). The slightly as foci of favism. The lower frequencies observed in the semi-mountainous results of this work on selected groups are on October 1, 2021 by guest. Protected shown in Table III. High frequencies were found in Kremasti (34-7% ), Sianna (33 3 o), and Laerma TABLE I (35 0o). G6PD DEFICIENCY IN GENERAL AND Analysis of the combined data obtained from the SELECTED SAMPLES general and the selected groups allowed us to plot the geographical distribution of G6PD deficiency 0o of Total Prevalence No. Male of G6PD shown in Fig. 1. This illustrates the uneven dis- Sample Examined Population Deficiency tribution of G6PD deficiency in the island; lower frequencies were noted in the upper north region General 451 2 3 22-2 Selected 187 5-6 25 8 (8-15 %) and higher frequencies in the lowland Turks 71 3-5 2-8 areas of the south and south east regions ( > 30%0), Total 709 2-5 24-6 while in the north east region and the semi-moun- tainous areas the frequency ranged from 15-20%O, J Med Genet: first published as 10.1136/jmg.6.3.286 on 1 September 1969. Downloaded from 288 C. A. Kattaniis, A. Chaidas, and S. Chaidas '1m emasti 0 O0 copyright. FIG. 1. Geographical distribution of G6PD deficiency in Rhodes. FIG. 2. Geographical distribution of favism in Rhodes. and in the north west from 20-25%. It is interest- TABLE IV ing that the frequency of enzymic deficiency in- PREVALENCE OF FAVISM AMONG G6PD creases DEFICIENT INDIVIDUALS IN RHODES gradually from north to south, and that the http://jmg.bmj.com/ isolated foci with like high frequencies, Kremasti Prevalence (347%o) and Sianna (33.30o), were detected in areas of Favism No. Instances in with much lower frequencies. Area Deficient of Favism Deficient Subjects (%)o Susceptibility of G6PD Deficient Subjects to North 43 3 6-9 Vicia faba. This i3 shown in Table IV. Of 143 South 100 15 15-0 deficient boys exposed to fava beans, only 18 (13°/,) Rhodes on October 1, 2021 by guest.

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