Childhood portal hypertension in Jamaica

Portal hypertension and bleeding from oesophageal varices in children remain a difficult medical problem. The clinical course and management of children with portal hypertension seen over a 14-year period was reviewed. There were 5 females and 2 males with a mean age of 3.6 years at presentation. Five patients presented with severe upper gastrointestinal bleeding and two with severe hypersplenism. All patients had extra-hepatic portal hypertension. Five patients were treated with endoscopic sclerotherapy, including one who had bleeding five years post-splenectomy. A mean of 9 sclerotherapy sessions was performed in each patient. Complete obliteration of varices was not achived in any patient and a single rebleeding episode occurred in four. Three children underwent operative management consisting of splenectomy in two and splenectomy and central spleno-renal shunt in one. There was no mortality in either group after a mean follow-up of 4.3 years. Sclerotherapy may not be totally successful in long-term management of childhood portal hypertension. Surgical therapy or a combination of sclerotherapy and surgery may be the best approach (AU)

Two different forms of homozygous sickle-cell disease - abstract

Haematological, clinical and some molecular genetic features have been compared in two groups of patients with homozygous sickle-cell (SS) disease in Saudi Arabia, 33 patients from the Eastern Province (eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian haplotype of DNA polymorphisms within the beta globin gene cluster whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had significantly more deletional alpha thalassaemia, higher levels of total haemoglobin and foetal haemoglobin, and lower of HBA, mean volume reticulocytes, and platelets. Clinically, Eastern patients had a greater persistence of splenomegaly, less dactylitis, less acute chest syndrome, a more normal body build and greater subscapular skin fold thickness. Painful crises occurred with equal frequency in both groups. Avascular necrosis of the femoral head was common in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe, consistent with the Benin haplotype suggesting an African origin (AU)

Persistent splenomegaly and hypersplenism in sickle cell disease - abstract

Hypersplenism, arbitrarily defined as a spleen more than 3 cm below the left costal margin, associated with an haemoglobin level below 6.5 gm/dl and platelet counts below 260 x 10/1, for at least one month, occurred in 38/308 (12.3 percent) children with SS disease in a cohort study followed from birth. Comparison of clinical and haematological features in 12 patients (10 SS; 2 S§ thalassemia), with splenomegaly but without hypersplenism, indicated that hypersplenic patients had significantly shorter red cell survival (mean 3.8 days, p=0.04), lower red cell volumes (p=0.03), higher plasma volumes (p=0.003) and higher blood volumes (p=0.02). These patients also had greater diploic expansion (p = 0.05) and greater cardiomegaly (p =0.0d). Following splenectomy, there were highly significant increases in haemoglobin levels, red cell volume, red cell survival, and platelet counts, and decreases in reticulocytes and plasma volume. Height velocity over the year following splenectomy increased in 7/9 patients, with adequate data, at ages when height velocity is normally falling. Hypersplenism is characterized by severe anaemia, rapid haemolysis, and bone expansion; the metabolic cost of the erythropoietic hyperactivity may compete with the demands for normal growth. Splenectomy is the optimal method of treatment in such cases (AU)

Neonatal manifestation of congenital rubella following an outbreak in Trinidad

An outbreak of rubella occurred in Trinidad during 1982 and continued into 1983 when 992 cases were reported in a 17-month period. Twenty infants were diagnosed as suffering from the congenital rubella syndrome based on clinical and laboratory findings. There was a positive history of maternal rubella in 17 (85 per cent), the majority of whom were under 25 years of age. There was equal sex distribution in the affected infants; half of whom showed growth retardation. Hepatosplenomegaly was the commonest finding (90 and 80 per cent). Other findings were thrombocytopenia (55 per cent) abnormal central nervous system signs (60 per cent), congenital heart disease (55 per cent), eye defects (50 per cent), X-ray changes in the lung (35 per cent) and bones (35 per cent), purpura (25 per cent) and anaemia (40 per cent). Two of the twenty neonates died (10 per cent mortality). Positive rubella antibody titre (HAI) ranged from 1:20 to 1:320. Rubella-specific IgM was positive in seven of 15 babies (46 per cent) (AU)

The interaction of alpha-thalassemia and homozygous sickle-cell disease

Patients with homozygous sickle-cell disease may be homozygous for alpha-thalassemia 2 (O-/O-), may be heterozygous for alpha-thalessemia 2 (O-/OO), or may have a normal alpha-globin-gene complement (OO/OO). We compared the clinical and hematologic features of 44 patients who had sickle-cell disease and homozygous alpha-thalassemia 2 with those of controls with the two hematologic conditions. The patients with homozygous alpha-thalassemia 2 had significantly higher red-cell counts and levels of hemoglobin and hemoglobin Aý, as well as significantly lower hemoglobin F, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, reticulocyte counts, irreversibly-sickled-cell counts, and serum total billirubin levels, than those with a normal alpha-globin-gene complement. Heterozygotes (O-/OO) had intermediate values. In the group with homozygous alpha-thalassemia 2, fewer patients had episodes of acute chest syndrome and chronic leg ulceration and more patients had splenomegaly, as compared with patients in the other two subgroups. These data confirmed previous suggestions that alpha-thalassemia inhibits in vivo sickling in homozygous sickle-cell disease and may be an important genetic determinant of its hematologic severity.

Determinants of haemoglobin level in sickle cell-haemoglobin C disease

The determinants of steady state haemoglobin levels in sickle cell-haemoglobin C (SC) disease were investigated by measuring routine haematological and biochemical indices, red cell survival, oxygen affinity, pitted erythrocytes, and red cell and plasma volumes in 31 adult patients (15 male; 16 female). Red cell survival was shortened in all subjects, and was positively correlated with haemoglobin level. However, many haemoglobin values were within the normal range, especially in male subjects. Palpable splenomegaly, which occurred in 53 percent of patients, did not appear to effect haemoglobin levels, red cell survival, plasma volume, but was associated with lower platelet counts and decreased pitted red cells. Sex related differences were found in total haemoglobin, packed cell volume, conductivity cell volume, red cell count, and in the blood volume measurements. Red cell, plasma and total blood volumes in patients varied with weight and cube of height in manner observed in normal subjects, although red cell volumes were lower and plasma volumes were greater than in normal subjects of given height and weight. Anaemia in SC disease is related to the haemolytic rate but the major determinant appears to be an inappropriate increase in plasma volume (Summary)

Comparison of sickle cell-beta§ thalassaemia with homozygous sickle cell disease

Clinical and haematological features in 41 patients with sickle cell-᧠thalassaemia (S᧠thalassaemia) and in 123 age-sex matched controls with homozygous sickle cell (SS) disease were compared. Persistence of splenomegaly was more common and fetal loss less common in S᧠thalassaemia but other clinical features were similar in the two genotypes. Total haemoglobin, Hb A2, PCV, CCV, and red cell count were significantly higher and MCV, MCH, MCHC,and ISC counts significantly lower in Sá§thalassaemia. Proportional reticulocyte counts were significantly lower in S᧠thalassaemia but there was a difference in absolute reticulocyte counts. Persistence of splenomegaly and low ISC counts are compatible with decreased intravascular sickling which may result from the lower mean cell haemoglobin S concentration in S᧠thalassaemia. If beneficial effects of a low MCHC can be confirmed then a carefully monitored trial of iron deficiency in SS disease may be a logical experimental procedure.(AU)

Early splenomegaly in homozygous sickle-cell disease: an indicator of susceptibility to infection

135 children with homozygous sickle-cell (SS) disease diagnosed at birth have been followed for 1-5 years. Severe bacterial infections were confined to those in whom the spleen was first palpable at or before 1 year of age and were commonest in those in whom the spleen was first palpable at or before age 6 months. Regular follow-up of children with SS disease diagnosed at birth will identify children particularly at risk of severe infections. (Summary)

Two-year follow-up of hycanthone-treated schistosomiasis mansoni patients in St. Lucia

Of 433 schistosomiasis mansoni patients in St. Lucia who were treated with hycanthone ( 3mg/kg of body weight), 190 were seen 2 years after treatment and 143 of these had attended all follow-up examinations at 6 weeks, 6 months, 1 year, and 2 years. Viable eggs were not detected in 86 percent at 1 year nor in 76 percent at 2 years. The reinfection rate, as judged by a significant increase in egg excretion, was 15 percent and was related to the geographic area to which the patient returned. Extremely high total reduction in egg excreation (98 percent) was achieved through 1 year, and even with reinfections this fell only to 87 percent at 2 years. Liver and spleen enlargement was related to intensity of infection and responded to treatment in 92 percent and 83 percent of instances, respectively. Among patients with hepatosplenomegaly, those 15 years or older showed less clinical response than younger patients but were too few for statistical comparison. (AU)

A controlled study of morbidity of Schistosomiasis mansoni in St. Lucian children, based on quantitative egg excretion

A study of the morbidity of schistosomiasis mansoni was made in 138 schoolchildren (age range, 7-16 years) in St. Lucia. The study was based on quantitative egg excretion data collected over a 4-year period before the study and included a comparable uninfected control group. All examinations were carried out "blind". Infected subjects were divided into three levels of intensity of infection: heavy, 400 or more eggs/ml of feces; moderate, 100 to 300 eggs/ml; and light, 10 to 75 eggs/ml. The children were hospitalized for medical histories and physical and laboratory examinations. Gastrointestinal symptoms were present at relatively high levels in all groups, and were more frequent in the Schistosoma mansoni-infected subjects than in the controls. Anthropometric measurements showed no differences between the groups. Hepatomegaly and splenomegaly were significantly more frequent in the heavy-moderate infection group, and extension of the liver below the coastal margin was found to increase with intensity of infection; serum albumin level was inversely related. It was clear that in this St. Lucian study, infection with S. mansoni did not result in disease in most of the school-age subjects investigated; assessment of possible long-term(>4 years) effects was not made. This study provides a method for assessing morbidity of schistosomiasis based on quantitative egg excretion and demonstrates the relation of objective morbidity to intensity of infection.(AU)

The clinical features of haemoglobin SC disease in Jamaica

The clinical and haematological features of 90 Jamaican patients with haemoglobin SC disease are reviewed. Mean haemoglobin levels indicated mild anaemia although individual haemoglobin levels were often within the normal range. The clinical features were qualitatively similar to those of homozygous sickle cell disease(SS disease) although they were generlly less frequent and of lesser severity. Ocular pathology was an exception, occuring more frequently in SS disease even in age-sex-matched groups. There is some evidence that the higher haemoglobin level in SC disease may be aetiologically related to retinal vascular disease. (AU)

Immunological studies in Schistosoma mansoni infection in St. Lucia

An investigation was made of the immunological status of matched groups of patients with Schictosoma mansoni infection in St. Lucia, one group with hepatosplenic disease and the other with only intestinal disease. No impairment of humoral or cellular immunity was detected in either group. IgG and IgM levels were above normal range and were higher in the patients with intestinal disease, but only the difference between groups in IgG level was statistically significant. In their reaction to specific schistisome antigens and ability to develop delayed hypersensitivity, the groups were about equal. (AU)

Clinical features of homozygous SS disease in Jamaican children

The clinical features in the first 12 years of life of 100 patients with homozygous SS anaemia are described. The majority of patients presented before age 2 years. The earliest diagnosis was made at 3 months of age. The hand foot syndrome, painful crisis and megaloblastic change were early manifestations of disease, whereas leg ulceration did not occur until beyond the age of 6 years. No examples of haemolytic crises were seen. Growth did not appear to be retarded by Jamaican standards. Death occurred in 2 cases (AU)

Clinical trial of Hycanthone in Schistomiasis mansoni in St. Lucia

A clinical trial of a new antischistosomal drug, hycanthone methanesulfonate, was undertaken in 103 patients with schistosomiasis mansoni hospitalized in St. Lucia, West Indies. The drug was administered in a single intramuscular dose of 3mg per kg of body weight. The commonest side effect, vomiting, occurred in 48 patients (47 percent); 33 other patients complained of nausea, anorexia, or abdominal pain. In general, these symptoms ceased within 24 hours after treatment. Quantitative examination for Schistosoma mansoni eggs was carried out on three fecal specimens before treatment and at 6 weeks, 4 months, and 6 months after treatment. At 6 months after treatment, 26 of 94 patients (28 percent) were no longer excreting eggs, and 76 patients (81 percent) had sustained a greater than 90 percent reduction in egg-excretion level; for these 94 as a group, the total number of eggs excreted had been reduced by 97 percent. The efficacy of the drug did not appear to vary with severity of infection as measured by number of eggs excreted or by enlargement of the liver or spleen, or both. In this group of patients, two-thirds of whom were under 20 years of age, enlargement of the liver or spleen was frequently found to regress after treatment.(AU)

Splenomegaly in sickle cell anaemia - abstract

Traditionally sickle cell anaemia is characterised by splenic atrophy in adult life but occasional persistence of splenomegaly is now well recognized. Splenomegaly is not present at birth and reached a maximum incidence of 60-70 percent at the age of 18 months. There is then a gradual disappearance of splenomegaly which falls to 35 percent at the age of 12 years, 19 percent at the age 18 and finally to 9 percent in patients over the age of 25 years. Since the persistence of splenomegaly is frequently associated with a benign clinical course, it was felt important to find what factors favoured its persistence in some patients. High levels of foetal haemoglobin and low counts of irreversibly sickled cells (ISCs) were two factors found to be associated with persistence of splenomegaly. Low ISC counts have perviously been observed in splenomegaly and attributed to sieve like removal of these cells by the spleen. Evidence presented here suggests that low ISCs may be the cause of splenomegaly and the result. The practical implications of these observations are threefold. Firstly, it is the first evidence that ISCs may be related to tissue infarction. Secondly, occasionally splenectomy indicated on other grounds, may be deferred for fear that removal of the sieve like action of the spleen will be followed by an increased in ISCs and perhaps thrombatic phenomena. The evidence is against this. Thirdly, in children with hypersplenism, the decision to perform splenectomy or await spontaneous atrophy may be a relevant problem. It is suggested that since spontaneous atrophy is more common in cases with low Hb F levels, conservative therapy may be preferred (AU)

Irreversibly sickled cells and splenomegaly in sickle-cell anaemia

Low levels of irreversibly sickled cells occur in patients with sickle-cell anaemia and splenomegaly. The Hb F level appears to influence both the level of ISCs and the persistence of splenomegaly. It is suggested that low levels of ISCs allow splenomegaly to persist and hence are the cause and not primarily the result of persistent splenomegaly (AU)

Hepato-splenic schistosomiasis in St. Lucia - abstract

In one school nearly 10 percent of children in the 14/15 year age group were found to have splenomegaly. Parasitological and epidemiological evidence suggest this was due to S. mansoni but there is little evidence that the late stages of hepatosplenic schistosomiasis occur in St. Lucia. Detailed investigations were carried out with the co-operation of staff at the Queen Elizabeth Hospital in Barbados in an attempt to find other aetiologies to account for the hepatosplenomegaly in five St. Lucian children and to determine whether portal hypertension was present. Investigations included liver biopsy, barium swallow and splenoportography, full haematological and biochemical studies. The results failed to produce evidence of other aetiologies. Two of the children were found to have dilated oesophageal or gastric varices, all had high or high normal portal pressures. It is concluded that advanced hepatosplenic changes are thought to be irreversible one might expect that within the next decade some of these children may convert from the present compensated stage to decompensation with liver failure and death. It is concluded that advanced hepatosplenic changes due to S. mansoni are not uncommon in St. Lucia. Since these changes are thought to be irreversible one might expect that within the next decade some of these children may convert from the present compensated stage to decompensation with liver failure and death. Longitudinal studies are being carried out in attempts to determine whether regression of splenomegaly occurs and whether hepatic and spenic enlargement can be prevented by chemotherapy (AU)

The irreversibly sickled cell: a determinant of haemolysis in sickle cell anaemia

Red cell survival was estimated in a group of adult sickle cell anaemia patients using the 51Cr technique. Counts of irreversibly sickled cells were performed on thin coverslip preparations of capillary blood. These counts are relatively constant within the same individual but show marked variations between individuals. A significant correlation has been demonstrated between the irreversibly sickled cell count and the red cell survival. This correlation does not apply to sickle cell anaemia patients with splenomegaly in whom the irreversibly sickled cell count is always low (AU)

Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies

A study in Jamaica of 60 patients with sickle-cell anaemia over the age of 30 years showed that most of them were in full-time employment. Pains in the bones or joints, leg ulceration, and jaundice were the most frequent types of presentation, but only two patients had a haemoglobin level consistently below 6 g./100 ml. Most of the patients were well developed and of average height, and, though the development of secondary sexual characteristics was delayed, there was an average of 2.6 pregnancies per patient. These findings suggest that the course is more benign than has been realized. (AU)

Clinical features of adults with sickle cell anaemia in Jamaica - abstract

A group of 300 adults with sickle cell anaemia have been collected and followed in the sickle cell clinic over the course of the last three years. The clinical features of these patients are briefly described. Certain features such as the persistence of splenonmegaly into adult life are more common than was previously thought. In general, the disease in Jamaica presents a much milder form than the traditional descriptions of the disease from Africa, more over the clinical course becomes more benign with age and the freqency of hospital admissions, aplastic crises and painful crises decrease as the patients become older(AU)