Hemoglobin O Arab in four negro families and its interaction with Hemoglobin S and Hemoglobin C

Hemoglobin O Arab was found in 25 members of four apparently unrelated negro families in the West Indies of Jamaica. In each family the propositus had Hb SO disease. Two cases had been mistakenly diagnosed as Hb SC disease. Two persons heterozygous for both Hb C and Hb O Arab were found in these families, and Hb O Arab áthalassemia in one other relative. The clinical course and symptomatology of Hb SO disease is incomparable to that in Hb SD (O2á2121 Glu-> GluNH2) disease and more severe than Hb S2C2 disease. In vitro mixtures of Hb O Arab and Hb S change from a liquid to a gel phase at total hemoglobin concentrations weaker than those required to gel pure Hb S, whereas mixtures of Hb S with Hb A or Hb C require a stronger total hemoglobin concentration before gelling will occur. Oxygen dissociation studies on red cells containing Hb SO show a lowered oxygen affinity comparable to that found in homozygous sickle-cell anemia and outside the range for subjects with sickle-cell Hb C disease.(AU)

Hemoglobin O Arab in four negro families and its interaction with hemoglobin S and hemoglobin C

Hemoglobin O Arab (O2á2 121 Glu leads to Lys) was found in 25 members of four apparently unrelated Negro families in the West Indian island of Jamaica. In each family the propositus had Hb SO disease. Two cases had been mistakenly diagnosed as Hb SC disease. Two persons heterozygous for both Hb C and Hb O Arab were found in these families, and Hb O Arab á thalassemia in one other relative. The clinical course and symptomatology of Hb SO disease is comparable to that in Hb SD(O2á2 121 Glu leads to GluNH2) disease and more severe than Hb SC disease. In vitro mixtures of Hb O Arab and Hb S change from a liquid to a gel phase at total hemoglobin concentrations weaker than those required to gel pure Hb S, whereas mixtures of Hb C require a stronger total hemoglobin concentration before gelling will occur. Oxygen dissociation studies on red cells containing Hb SO show a homozygous sickle-cell anemia and outside the range for subjects with sickle-cell Hb C disease.(AU)

Hereditary persistence of foetal haemoglobin: A family study suggesting allelism of the F gene to the S and C haemoglobin genes

A large family is described in which the inheritance of a gene responsible for high levels of foetal haemoglobin (the F gene) and its interaction with the gene for haemoglobin-S is followed through three generations. Four cases of SF combination are reported. An example of the the CF combination is described. Evidence is produced that the F gene is situated at the same locus as the S and C genes and the gene for classical thalassaemia, and that it is therefore an allele of them. As an altenative explanation it is suggested that the high levels of foetal haemoglobin may not result from direct gene action but may be due to a failure of inheritance of normal haemoglobin following a deletion at the A-S-C locus (or a mutation lethal for beta-chain production), with a consequent revival of the dormant mechanism of foetal haemoglobin synthesis. Sickle-cell anaemia and the SF combination are phenotypically indistinguishable, and the difficulties in explaining the very marked clinical difference between them are discussed (Summary)

Thalassemia in the West Indies

Data are presented on seven cases of thalassemia major (six of whom were negroes) and 32 cases ofthalassemia minor of whom eight had high levels (20-26 per cent) of fetal hemoglobin. Two families with hemoglobin H disease are presented, in whom the presence of thalassemia minor could be demonstrated. The mode of inheritance of hemoglobin H disease is discussed. Two families with an inherited double A2 fraction of hemoglobin are presented. In one of these thalassemia was also found, in the other ellitocytos is occured concurrently. On the basis of these findings the existence of at least five different types of thalassemia is postulated. A study on 93 healthy students suggests a high incidence (above 3 per) of thalassemia minor in the West Indies. (Summary)

Sickle-cell disease in pregnancy

17 patients with sickle-cell disease were followed through pregnancy. 9 of them had sickle-cell anaemia, 7 had sickle-cell/haemoglobin-C disease, and one had an unusual form of sickle-cell thalassaemia. The maternal and foetal hazards are discussed, and seem to be considerably less serious than in most other reports. Complications were more frequent in the puerperium. 5 out of 7 cases of sickle-cell/haemoglobin-C disease had no complications at any time. The birth-weight of the infants in this series was very much below average. The incidence of sickle-cell disease amongst pregnant women in Jamaica seems to be very similar to the incidence in the general population (Summary)

The effect of iron and protein supplementations on the haemoglobin level of healthy female students

The possible existence of anaemia has been studied in a group of 84 healthy female West Indian students, all resident in the University College of the West Indies. Three blood specimens were taken at two week intervals and the effect of milk and ferrous gluconate supplementations on the haemoglobin level were studied. It is concluded that in this group as a whole there is statistically proven evidence of iron deficiency and very likely also evidence for protein deficiency. The possible explanations of these findings are discussed (AU)

Renal function tests in pregnancy - abstract

Renal clearance tests have been employed in an effort to determine the frequency of renal impairment as an underlying factor in hypertensive complications of pregnancy. The results obtained have been of no material help, but have demonstrated a direct relationship between the values of the clearances as calculated and the urinary flow rate. The implications of this finding are briefly discussed (AU)

Sickle-cell anaemia complicated by megaloblastic anaemia in infancy

In a series of fifty cases of megaloblastic anaemia of infancy five cases with associated sickle-cell anaemia were seen. These cases presented with unusually low haemoglobin and reticulocyte levels for sickle-cell anaemia, and the bone marrows were megaloblastic. Folic-acid therapy produced a dramatic increase in reticulocytes and a raise in haemoglobin to the level normally seen in sickle-cell anaemia. Some degree of associated iron deficiency was present in all cases. In one of the cases described it was possible to measure the half-life of transfused erythrocytes with reasonable accuracy. The cell survival was found to be normal. The question of crisis in sickle-cell anaemia is discussed (Summary)

Some clinical aspects of abnormal haemoglobins

A short survey will be given of the different possible clinical consequences of the possession of abnormal haemoglobins both in the heterozygous and in the homozygous states. Haematuria, the crisis in sickle cell anaemia and related conditions and jaundice will be discussed in somewhat greater detail (AU)

The bone changes in sickle cell anaemia and its genetic variants

The bone changes are described in fifty-one cases of sickle cell anaemia, nineteen cases of sickle cell haemoglobin C disease and two cases of sickle cell thalassaemia. Avascular necrosis of the head of the femur has been found in all three types of sickle cell disease. These responded to treatment. The changes found in six cases of Perthes' disease in the negro compared with the changes in avascular necrosis of the head of the femur in sickle cell disease. Hyperplastic bone changes are seen only in true sickle cell anaemia and not in the variants. Secondary osteomyelitis appears to be fairly common in sickle cell anaemia. Organisms of the salmonella group have often been found in these cases (Summary)

Sickling and haematuria: a preliminary report

Seventeen cases of haematuria in patients who had a positive sickling test are described. Various aspects of this association are discussed and compared with previously published reports. The point is made that nephrectomy is generally contraindicated. (AU)

Sickle-cell/haemoglobin-J disease

A case of sickle-cell/haemoglobin-J disease is reported. The interaction between the genes for haemoglobin S and J is not marked, resulting in a mild well-compensated haemolytic anaemia. Family studies suggest that the haemoglobin J was contributed by a Caucasian from North America.(AU)

Sickle-cell anaemia in adults and its differentiation from sickle-cell thalassaemia

It is relatively easy in Jamaica to separate adult cases of sickle-cell anaemia from sickle-cell thalassaemia. We present evidence to show that the great majority of our 49 adult cases of sickle-cell anaemia had the true genotype SS. We have always been able to distiguish our cases of sickle-cell thalassaemia from those with sickle-cell anaemia before family studies. The blood morphology is appreciably different in the two diseases. We were able to prove in one family that patients with sickle-cell anaemia can reach adult life and have children. Our family studies in sickle-cell anaemia have also shown the presence of an S gene in all parents and in all children of SS homozygotes. In the two years of our study we have seen only three deaths in our series of 114 cases of sickle-cell anaemia. We think that in Jamaica the true natural history of the disease presents itself, whereas in Africa it may be obscured by parasitic and other tropical diseases. This will tend to eliminate early in life those whose resistance is weakened by severe anaemia. In sickle-cell thalassaemia at least three groups of patients could be distinguished, depending on the race of the parent who had contributed the thalassaemia gene.(AU)

Levels of pseudocholinesterase and alkaline phosphatase in the sera of malnourished infants (abstract only)

The levels of these enzymes in malnourished children were estimated at regular intervals from the day of their admission to hospital until their discharge. The very different rates of increase of these enzymes are discussed and compared with the changes in weight, plasma albumin and haemoglobin. (AU)

Further observations on abnormal haemoglobins in Jamaica

The laboratory findings on 75 cases of sickle cell anaemia (genotype SS), 32 cases of sickle cell-haemoglobin C disease (genotype SC) and 11 case of sickle cell-thalassaemia disease are described. With cases reported earlier this makes a total of 114 cases of sickle cell anaemia and 45 cases of sickle cell-haemoglobin C disease which we have seen in the last two years. Approximately half our cases of sickle cell anaemia are 15 years of age or over, including three cases in one large family. Reasons are given for regarding these as cases of homozygous sickle cell anaemia. The haematological findings and foetal haemoglobin levels in these three conditions are discussed with special reference to their value in differential diagnosis. The apparent shortage of cases of sickle cell-haemoglobin C disease as compared with cases of sickle cell anaemia is discussed. A case of sickle cell anaemia responding well to splenoctomy is reported.(AU)

Sickle cell-thalassemia disease in Jamaica

Two cases of sickle-cell thalassemia disease are described in young women of mixed Chinese and African parentage. On hemoglobin electrophoresis, a complete suppression of hemoglobin A was found, giving a picture indistinguishable from that seen in sickle-cell anemia. The findings in these two cases are contrasted with those in other examples of this disease which we have studied in Jamaica. The importance of these findings in relation to the diagnosis of sickle cell anaemia is discussed (Summary)

An unusual type of hemoglobinopathy resembling sickle cell-thalassemia disease in a Jamaican family

Three generations of a Jamaican family of African extraction are desribed, in several members of which an abnormal gene is carried. This gene produces high levels of fetal hemoglobin unassociated with the usual stigmata of thalassemia. It is found in all three generations of the family associated with hemoglobin A only and is also found in at least two members of the family interacting with hemoglobin S. In the latter combination little or no disability results. The mode of inheritance of this abnormal gene is discussed, and reasons are put forward for a possible protective effect of high fetal hemogobin levels due to inhibition of sickling. The findings in the cord blood of the youngest child, including an unusually high percentage of sickling, are discussed, together with follow-up studies to the age of 25 weeks.(AU)

The incidence and clinical effects of abnormal haemoglobin in Jamaica (abstract only)

The mode of inheritance of the genes carrying abnormal haemoglobins is discussed, together with the methods used for their study. Some of our findings in Jamaica during the last nine months are presented. 780 women attending the ante-natal clinic have been investigated by haemoglobin electrophoresis. The incidence of the sickle cell trait is 9.5 per cent and of the haemoglobin C trait 3.4 per cent. In addition two women were found to have unsuspected sickle cell/haemoglobin C disease, and one lady had apparent sickle cell anaemia - she has four healthy children. The clinical features of sickle cell anaemia and other related diseases are discussed. Three cases of Cooley's Anaemia are reported, but the incidence of the Cooley gene is not known. The importance of this gene is stressed, for in conjunction with the S gene a condition - sickle cell/thalassaemia disease - is produced which may be indistinguishable clinically and in the laboratory from sickle cell anaemia. A case of sickle cell/thalassaemia disease is reported in which normal haemoglobin (A) production is completely suppressed giving the same electrophoretic and haematological picture as is found in sickle cell anaemia. The importance of differentiating this condition from sickle cell anaemia is stressed. This can be done by family studies. An example of homozygous haemoglobin C disease is reported. (AU)