Vox Sang. 30: 312-314 (1976)
Bombay (Oh) Phenotype in two Generations in an Indian Family MALTISATHEand H. M. BHATIA Blood Group Reference Centre (ICMR),Seth G.S. Medical College, Parel, Bombay
Abstract. A family is described in which the Bombay (h) and Lewis genes were inherited independently, with Oh Lewis-negative individuals in two generations.
‘Bombay’ (Oh) phenotype, first discovered in 1952, is a rare condition due to homozygous rare genes: h h. Though the condition is very rare among other populations, it is somewhat more prevalent among Indians with an incidence of 1 :7,600 in the Bombay population [BHATIA and SATHE,19741. Besides the large number of the cases reported from Maharashtra, the cases have also been reported from Bengal, Orissa, Uttar Pradesh, Madhya Pradesh as well as southern states like Andhra Pradesh, Karnataka, Goa, Tamil Nadu and Kerala [ROYet a!., 1957; YUNISet al., 1969; BHATIAand SATHE,19741. So far, only a single case of this phenotype in two generations is reported in the literature in an Indian family by YUNISet al. [1969]. Recently, a Maratha family from the southwest district of Maharashtra was investigated for this rare phenotype encountered in two generations. The propositus (J. S.), an 1l-year-old Maratha boy from Kolaba district, was admitted to the K. E. M. Hospital, Bombay, for neurosurgery. His blood was sent to the blood bank for grouping and crossmatching. He was reported as group 0 but possessed a potent antibody. The sample was identified as Oh type. Oh type blood was therefore crossmatched and one unit transfused to the patient during surgery. Samples of blood from family members of J. S . were collected near Pali in Kolaba district and brought to Bombay for investigation. The serological Received: May 30, 1975; accepted: June 4, 1975.
S ATHE/BH A T IA
313
1 SALIVA
II SALIVA H+Lea+Leb+
I
SALIVA H-Lea- Leb-
SALIVA H + L e a + L e b+
I
1
111
4
Lda-b-) SALIVA H-Leaweak
2 A2 L e ( a - b + ) SALIVA H+Lea+Leb+
4
3 OhLe(a+b-) SALIVA H-Lea+Leb-
0 SALIVA Not t e s t e d
Leb-
Fig. 1. Family of Mr. J. S., showing Oh phenotype in two generations. bay phenotype. The propositus is marked by an arrow.
or
=Bom-
findings on red cells, serum and saliva are given in figure 1. These studies revealed Oh phenotype in the mother (11-2) and another sib (111-3) of the propositus. Red cells of all the three Oh types in the family reacted with Ricinus extract as strongly as 0 group cells. Lewis groups of the family showed the propositus and his mother to be Oh Le(a-b-) while his brother was Oh Le(a + b -). Detailed Lewis studies on red cells and saliva were undertaken with a battery of anti-Lea and anti-Le(a+b)reagents. None of the four anti-Lea and two anti-Le(a+b)reacted with the red cells of the propositus and his mother. Saliva inhibitions gave a pattern suggesting that 11-2 and 111-1 were nonsecretors of Lewis and that 111-3 was a Lewis secretor. However, saliva of 111-1 gave weak inhibitions (1 :2) of anti-Le”fb against Le(a+) cells in comparison to his brother’s (111-3) saliva inhibition titre of 1:640. This weak inhibition by saliva of 111-1 may be either nonspecific as observed in many nonsecretor salivas at such low dilutions or because of the presence of the weak antigen found in many Le(a-b-) salivas first reported by LODGEet al. [1965]. We also observed similar findings i n our earlier case of Oh Le(a-b-) phenotype [SATHEand BHATIA,19731. The sera of the three Oh phenotype individuals, when tested at various temperatures, showed anti-H titre ranges of 1:256-1 :512 in the mother (11-2) and 1 :32-1 :64 in the sib (111-3). The propositus (111-1) had an antibody which reacted somewhat better at 4°C (1: 128) than at 37°C (1:32). Lewis anti-
3 14
S ATH@/BHAT1A
bodies were not detected in any of them, The anti-H antibody was inhibited by secretor salivas and reacted equally with adult and cord 0 cells. Family data suggested no consanguinity between 1-1 and 11-2. However, all of them belonged to a cluster of six villages in a small area, and inbreeding between the members of different villages is not ruled out. The possible absence of consanguinity in the family suggests a high frequency of the gene h in this area, supporting our earlier findings of a focus of this rare gene h in 19741. The earlier the southwest district of Maharashtra [BHATIAand SATHE, family report of YUNISet al. 119691 with Oh phenotype in two generations was a result of consanguineous marriages. The present family is also important as the first report of the Oh Le(a - b -) phenotype in two generations. This is well supported by the family studies where 1-1 and 1-2 (deceased) are both probably of, genotype L1 thus resulting in Oh 11genotype in 11-2. Her husband (11-I), though a secretor for ABH and Lea, is probably L1, giving two Oh children in the third generation with genotypes Oh 11 (111-1) and Oh Ll(II1-3), the later being phenotypically Oh Le(a + b -). This study provides the first evidence that H and Lewis genes are not linked, as has been proposed by others [5].
Acknowledgements The authors are thankful to the Dean, Seth G.S. Medical College, and the K.E.M. Hospital for permission to publish the case. Thanks are also due to Shri P. G. JOSHI and Shri N. T. NARSEfor their help in the family studies.
References BHATIA,H. M. and SATHE, M. S.: Incidence of ‘Bombay’ (Oh) phenotype and weaker variants of A and B antigen in Bombay. Vox Sang. 27: 524 (1974). LODGE,T. W.; ANDERSON J., and GOLD,E. R.: Observations on antibodies reacting with adult and cord adult and cord le (a-b-) cells with Oh e (a-b-) cells and a soluble antigen present in certain salivas. Indian J. med. Res. 10: 73 (1965). ROY,M. N.; DUTTA, S.; MITRA,P. C., and GHOSH,S.: Occurrence of natural anti-H in a group of individuals. J. Indian med. Ass. 29: 224 (1957). SATHE,M. S. and BKATIA,H. M.: Second example of Oh Le (a-) phenotype in India. Indian J. med. Res. 61: 856 (1973). YUNIS,E.J.; SARADAL, J. M., and BRIDGES,R. A.: Genetics of the ‘Bombay’ phenotype. Blood 33: 124 (1969).
Dr. M.SATHE, Blood Group Reference Centre (ICMR), Seth G.S. Medical College, Parel, Bombay, 4000 12 (India)
Bombay (Oh) Phenotype in two Generations in an Indian Family MALTISATHEand H. M. BHATIA Blood Group Reference Centre (ICMR),Seth G.S. Medical College, Parel, Bombay
Abstract. A family is described in which the Bombay (h) and Lewis genes were inherited independently, with Oh Lewis-negative individuals in two generations.
‘Bombay’ (Oh) phenotype, first discovered in 1952, is a rare condition due to homozygous rare genes: h h. Though the condition is very rare among other populations, it is somewhat more prevalent among Indians with an incidence of 1 :7,600 in the Bombay population [BHATIA and SATHE,19741. Besides the large number of the cases reported from Maharashtra, the cases have also been reported from Bengal, Orissa, Uttar Pradesh, Madhya Pradesh as well as southern states like Andhra Pradesh, Karnataka, Goa, Tamil Nadu and Kerala [ROYet a!., 1957; YUNISet al., 1969; BHATIAand SATHE,19741. So far, only a single case of this phenotype in two generations is reported in the literature in an Indian family by YUNISet al. [1969]. Recently, a Maratha family from the southwest district of Maharashtra was investigated for this rare phenotype encountered in two generations. The propositus (J. S.), an 1l-year-old Maratha boy from Kolaba district, was admitted to the K. E. M. Hospital, Bombay, for neurosurgery. His blood was sent to the blood bank for grouping and crossmatching. He was reported as group 0 but possessed a potent antibody. The sample was identified as Oh type. Oh type blood was therefore crossmatched and one unit transfused to the patient during surgery. Samples of blood from family members of J. S . were collected near Pali in Kolaba district and brought to Bombay for investigation. The serological Received: May 30, 1975; accepted: June 4, 1975.
S ATHE/BH A T IA
313
1 SALIVA
II SALIVA H+Lea+Leb+
I
SALIVA H-Lea- Leb-
SALIVA H + L e a + L e b+
I
1
111
4
Lda-b-) SALIVA H-Leaweak
2 A2 L e ( a - b + ) SALIVA H+Lea+Leb+
4
3 OhLe(a+b-) SALIVA H-Lea+Leb-
0 SALIVA Not t e s t e d
Leb-
Fig. 1. Family of Mr. J. S., showing Oh phenotype in two generations. bay phenotype. The propositus is marked by an arrow.
or
=Bom-
findings on red cells, serum and saliva are given in figure 1. These studies revealed Oh phenotype in the mother (11-2) and another sib (111-3) of the propositus. Red cells of all the three Oh types in the family reacted with Ricinus extract as strongly as 0 group cells. Lewis groups of the family showed the propositus and his mother to be Oh Le(a-b-) while his brother was Oh Le(a + b -). Detailed Lewis studies on red cells and saliva were undertaken with a battery of anti-Lea and anti-Le(a+b)reagents. None of the four anti-Lea and two anti-Le(a+b)reacted with the red cells of the propositus and his mother. Saliva inhibitions gave a pattern suggesting that 11-2 and 111-1 were nonsecretors of Lewis and that 111-3 was a Lewis secretor. However, saliva of 111-1 gave weak inhibitions (1 :2) of anti-Le”fb against Le(a+) cells in comparison to his brother’s (111-3) saliva inhibition titre of 1:640. This weak inhibition by saliva of 111-1 may be either nonspecific as observed in many nonsecretor salivas at such low dilutions or because of the presence of the weak antigen found in many Le(a-b-) salivas first reported by LODGEet al. [1965]. We also observed similar findings i n our earlier case of Oh Le(a-b-) phenotype [SATHEand BHATIA,19731. The sera of the three Oh phenotype individuals, when tested at various temperatures, showed anti-H titre ranges of 1:256-1 :512 in the mother (11-2) and 1 :32-1 :64 in the sib (111-3). The propositus (111-1) had an antibody which reacted somewhat better at 4°C (1: 128) than at 37°C (1:32). Lewis anti-
3 14
S ATH@/BHAT1A
bodies were not detected in any of them, The anti-H antibody was inhibited by secretor salivas and reacted equally with adult and cord 0 cells. Family data suggested no consanguinity between 1-1 and 11-2. However, all of them belonged to a cluster of six villages in a small area, and inbreeding between the members of different villages is not ruled out. The possible absence of consanguinity in the family suggests a high frequency of the gene h in this area, supporting our earlier findings of a focus of this rare gene h in 19741. The earlier the southwest district of Maharashtra [BHATIAand SATHE, family report of YUNISet al. 119691 with Oh phenotype in two generations was a result of consanguineous marriages. The present family is also important as the first report of the Oh Le(a - b -) phenotype in two generations. This is well supported by the family studies where 1-1 and 1-2 (deceased) are both probably of, genotype L1 thus resulting in Oh 11genotype in 11-2. Her husband (11-I), though a secretor for ABH and Lea, is probably L1, giving two Oh children in the third generation with genotypes Oh 11 (111-1) and Oh Ll(II1-3), the later being phenotypically Oh Le(a + b -). This study provides the first evidence that H and Lewis genes are not linked, as has been proposed by others [5].
Acknowledgements The authors are thankful to the Dean, Seth G.S. Medical College, and the K.E.M. Hospital for permission to publish the case. Thanks are also due to Shri P. G. JOSHI and Shri N. T. NARSEfor their help in the family studies.
References BHATIA,H. M. and SATHE, M. S.: Incidence of ‘Bombay’ (Oh) phenotype and weaker variants of A and B antigen in Bombay. Vox Sang. 27: 524 (1974). LODGE,T. W.; ANDERSON J., and GOLD,E. R.: Observations on antibodies reacting with adult and cord adult and cord le (a-b-) cells with Oh e (a-b-) cells and a soluble antigen present in certain salivas. Indian J. med. Res. 10: 73 (1965). ROY,M. N.; DUTTA, S.; MITRA,P. C., and GHOSH,S.: Occurrence of natural anti-H in a group of individuals. J. Indian med. Ass. 29: 224 (1957). SATHE,M. S. and BKATIA,H. M.: Second example of Oh Le (a-) phenotype in India. Indian J. med. Res. 61: 856 (1973). YUNIS,E.J.; SARADAL, J. M., and BRIDGES,R. A.: Genetics of the ‘Bombay’ phenotype. Blood 33: 124 (1969).
Dr. M.SATHE, Blood Group Reference Centre (ICMR), Seth G.S. Medical College, Parel, Bombay, 4000 12 (India)
