Sickle cell disease: the Lebanese experience.

Sickle cell disease (SCD), the commonest single gene disorder worldwide, is an inherited disease that has different clinical and hematological manifestations in different populations. The objective of this study is to describe the characteristics of the Lebanese SCD population. This was a retrospective study that included information on 387 patients with either sickle cell anemia (SS) or sickle beta-thalassemia (ST). The mean (+/-SD) age was 17.9 years (+/-12.5), and the mean (+/-SD) follow-up was 9.3 +/- 6.9 years. Fifty percent of the patients were males and SS/ST distribution was 3 : 1. The disease was clustered in two geographic areas in North and South Lebanon. Nearly, all patients were Muslims and 56% were the offspring of consanguineous parents. The prevalence of splenomegaly beyond 6 years of age among SS patients was 28.9%. The prevalence rates of stroke, leg ulcers and priapism were 4.1%, 1.4%, and 0.8%, respectively. Comparing the SS and the ST patients, there were no statistically significant differences in the prevalence of all clinical manifestations except for splenomegaly (SS: 28.9%, ST: 54.9%, P-value < 0.001) and splenectomy (SS: 16.1%, ST: 35.7%, P-value < 0.001). In contrast to Northern American populations and similar to some Mediterranean populations, Lebanese SCD patients have a higher prevalence of persistent splenomegaly. The relatively low incidence of thrombotic complications deserves further investigation. The study's limitations include those of any other retrospective study and the fact that not all Lebanese centers caring for inherited hemoglobin disorders were included. However, the results of this first large scale national survey indicate that preventive efforts should target the Northern and Southern regions of Lebanon to decrease the number of new off springs afflicted with this disease similar to what has been successfully achieved with Thalassemia, another hemoglobinopathy that is highly prevalent in the country.

Splenic function in sickle cell anemia patients in Qatif, Saudi Arabia.

A prospective study was conducted to study the splenic function among sickle cell anemia (SCA) patients in Qatif (Eastern Province of Saudi Arabia). Seventy-seven patients (30 children and 47 adults aged 2-57 years) were included. (99m)Tc stannous colloid liver-spleen scan was done for each patient during steady state. The splenic function was graded from 0 to 4 in relation to liver uptake. Seventy percent of our patients showed evidence of splenic hypofunction, and most of them (83%) had severe hyposplenism. Up to the age of 4 years, only 17% of the children showed evidence of functional hyposplenism, but by the age of 10 years >50% were hyposplenic. Most of the hyposplenic children had functional hyposplenism, whereas only one-third of hyposplenic adults had autosplenectomy. There was no effect of level of HbF on the frequency of hyposplenism, but on the other hand low MCV seems to be protective against hyposplenism. A significant number of adult SCA patients have clinically enlarged spleens, and almost a third have normally functioning spleens. Because of the low prevalence of hyposplenism in children younger than 4 years of age, routine penicillin prophylaxis is probably not indicated in this population, an issue which needs further evaluation.

Splenectomy for hematological diseases: The Qatif Central Hospital experience.

BACKGROUND: In the Eastern Province of Saudi Arabia, an area known for various hemoglobinopathies, splenectomy is performed rather frequently. This study is an analysis of our experience with splenectomy performed for various hematological disorders between 1988 and 1997, outlining the indications, complications and outcome. PATIENTS AND METHODS: This is a retrospective analysis of all patients who had splenectomy at our hospital during this period. One hundred and forty-three patients were treated for various hematological disorders at our hospital. These disorders included sickle cell disease (SCD) (100 patients), sickle ss-thalassemia (S-ss-thal) (13 patients), ss-thalassemia major (15 patients), Hb H disease (3 patients), idiopathic thrombocytopenic purpura (ITP) (5 patients), Gaucherâs disease (2 patients), hereditary spherocytosis (1 patient), autoimmune hemolytic anemia (1 patient), thalassemia intermediate (2 patients) and chronic myeloid leukemia (1 patient). RESULTS: The indications for splenectomy in those with SCD and S-ss-thal were: hypersplenism (26 patients), major splenic sequestration crisis (23 patients), minor recurrent splenic sequestration crisis (50 patients), splenic abscess (12 patients), and massive splenic infarction (2 patients). Splenectomy in these patients was beneficial in reducing their transfusion requirements and its attendant risks, eliminating the discomfort from mechanical pressure of the enlarged spleen, avoiding the risks of acute splenic sequestration crisis, and managing splenic abscess. For those with thalassemia, total splenectomy was beneficial in reducing their transfusion requirements, while partial splenectomy was beneficial only as a temporary measure, as regrowth of splenic remnant in these patients subsequently led to increase in their transfusion requirements. Those with ITP, hereditary spherocytosis, and autoimmune hemolytic anemia showed excellent response following splenectomy. There was no mortality, and the postoperative morbidity was 5.6%. CONCLUSION: With careful perioperative management, splenectomy is both safe and beneficial in a selected group of patients with hematological diseases.

Isoxsuprine in the treatment of sickle cell painful crises: A double-blind comparative study with narcotic analgesic.

BACKGROUND: Isoxsuprine is a tocolytic agent which improves erythrocyte deformability. It was accidentally found to be effective in the management of sickle cell disease (SCD) painful crises. The experience with the drug in the treatment of sickle cell disease is limited. This double-blind randomized comparative study was undertaken to test its efficacy and safety in the treatment of SCD painful crises. PATIENTS AND METHODS: Forty-three SCD patients (33 males and 10 females) with 44 episodes of pain were included in the study (i.e., one patient was included twice). Only those with painful crises requiring hospital admission were included. Patients were randomized to receive either isoxsuprine 5-10 mg, or meperidine 50100 mg intramuscularly, according to body weight, every four hours. A random selection of 23 patients received isoxsuprine, and 21 received meperidine. Pain score, duration of crisis, hospital stay, and side effects were monitored. RESULTS: No significant difference was found in any parameter except for pain score at 30 and 60 minutes. CONCLUSION: We conclude that isoxsuprine appears to be effective in the treatment of sickle cell painful crises. Confirmation of its efficacy in studies involving a larger number of patients is warranted.

The role of partial splenectomy in children with thalassemia.

Partial splenectomy was performed on 12 patients with thalassemia (9 beta-thalassemia major and 3 Hb H disease) to reduce blood transfusion requirements. The indication for partial splenectomy was the presence of splenomegaly and increased blood transfusion requirements (i.e. Hb drop > 0.5 g per week). Their ages ranged from 3 to 10 years (mean 6.9 years). On follow-up, ranging from 1.1-5.5 years (mean 2.6 years), two of the three patients with Hb H disease required no more blood transfusions while the third continued to receive blood transfusions, but at a lower frequency. For those with beta-thalassemia major, the transfusion requirements and Hb drop per week decreased in the majority of patients. This is specially so during the first 1-2 years following partial splenectomy. In all, about 1/3 of the size of the normal spleen was preserved (either upper or lower pole) which was judged functional as there has been no significant infection in any of the patients, no change in IgM level, no Howell-Jolly bodies and visualization on scintigraphy. Partial splenectomy is recommended to start with for those with Hb H disease. For patients with beta-thalassemia major, partial splenectomy is beneficial as a temporary measure and in those children who are less than 5 years of age, as they are at greater risk of post splenectomy sepsis.

Sonographic assessment of spleen size in Saudi patients with sickle cell disease.

BACKGROUND: In patients with SCD, the spleen commonly enlarges during the first two decades of life but then undergoes autosplenectomy due to repeated attacks of vaso-occlusion and infarction. This, however, is not the case in Saudi patients with SCD, where splenomegaly sometimes persists into adult life. PATIENTS AND METHODS: Ultrasonography was used to evaluate spleen size in 363 Saudi patients with SCD (340 SCD and 23 sickle I(2)-thalassemia). A total of 363 patients were evaluated. Their ages ranged from 1-60 years (mean 16 years). RESULTS: Only 24 (6.6%) of our patients had autosplenectomy. The splenic index increased with age until about 40 years of age and then gradually decreased, indicating persistence of splenomegaly in our patients into an older age group. Forty-three patients (11.8%) had marked-massive splenomegaly (splenic index >120 cm 2) and these had higher HbF levels (mean HbF=22.2%) when compared with those who had autosplenectomy (mean HbF=14.6). This is significant (P-value=0.0169) and confirms the effect of HbF on persistence of splenomegaly in SCD patients. CONCLUSIONS: Ultrasonography is a simple, safe and accurate method of assessing splenic size in patients with sickle cell disease. Patients with persistent splenomegaly should be followed closely for development of complications which may necessitate splenectomy.

Elective, postoperative ventilation in the management of esophageal atresia and tracheoesophageal fistula.

The management of esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) has undergone many changes. As a result of recent advances in neonatal intensive care and pediatric anesthesia, the survival of infants with EA and TEF has improved markedly, but the occurrence of anastomotic complications has remained constant. To overcome this problem, various techniques and suture materials have been used. This review of 20 consecutive cases of EA/TEF stresses the importance and influence of non-reversal of anesthesia, paralysis, and elective ventilation for protection of the esophageal anastomosis following repair of EA and TEF.

Sensorineural hearing loss in homozygous sickle cell disease in Qatif, Saudi Arabia.

Sensorineural hearing loss (SNHL) is a known complication of sickle cell disease (SCD). There is a paucity of information on this problem in Sausi SCD patients. A prospective controlled study was conducted over 27 months in Qatif Central Hospital. One hundred patients with sickle cell anemia (SCA), aged five to 40 years, were studied. The control group consisted of 100 healthy individuals. A detailed history, otologic and audiologic examinations were carried out on both groups. Further investigations to rule out local retrocochlear pathology were performed on those having unilateral SNHL. No case of SNHL was detected in the control group, while it was recorded in 19 (19%) of SCA patients, 13 males and six females. There was a significant association between the SNHL and the onset of first vaso-occlusive crisis at six years of age or less. There was no significant difference in the frequency of SNHL between children and adults. Twenty-one percent of patients who had SNHL completely recovered. Patients with SCD need a careful regular hearing assessment. Those detected to have SNHL need a careful plan implemented by both the clinician and otolaryngologist for proper care of this important complication.

Splenectomy in patients with sickle-cell disease.

BACKGROUND: Splenic complications of sickle-cell disease (SCD) are associated with morbidity, and in some it may lead to mortality. This paper presents our experience with 43 patients with SCD who had splenectomy as part of their management. PATIENTS AND METHODS: The records of 43 patients with SCD who had splenectomy were examined for age at operation, sex, hemoglobin (Hb) electrophoresis, indication for splenectomy, pre- and postoperative medications, operative procedures, and postoperative complications. RESULTS: The indications for splenectomy were acute splenic sequestration crisis (ASSC) in 21 patients, hypersplenism in 15, and splenic abscess in 7. In 17 patients, the spleen was also found to be massively enlarged causing discomfort and intervening with everyday activity. For those with hypersplenism, there was a significant postoperative increase in total Hb (P < 0.0001), hematocrit (P < 0.0001), white blood cells (P < 0.0001), and platelet count (P < 0.0001). CONCLUSIONS: With careful perioperative management and proper follow-up, splenectomy in patients with SCD is beneficial in reducing their transfusion requirements and its attendant risks, eliminating the discomfort from mechanical pressure of the enlarged spleen, avoiding the risks of ASSC, and managing splenic abscess.

Perinatal morbidity and mortality in offspring of diabetic mothers in Qatif, Saudi Arabia.

Diabetic mothers and their offspring were prospectively studied. Perinatal and neonatal morbidity and mortality data were analysed. Out of 11,677 deliveries in the hospital, 133 (1.14%) were delivered by diabetic mothers. They were made up of six (4.5%) stillbirths and 127 (95.5%) live births. Seventy-seven (57.9%), 55 (41.3%) and 1 (0.8%) were large, appropriate and small for gestational age, respectively. Hypoglycemia occurred in 49 (38.6%) of the 127 infants. Other associated problems were bacterial infections, congenital anomalies, birth trauma, preterm delivery, respiratory distress, polycythaemia and anaemia. Only 52 (39.1%) of the mothers received appropriate treatment for their diabetes during pregnancy. Poor maternal diabetic control resulted in high perinatal morbidity and mortality in the offspring. In order to improve the outcome in offspring of diabetic mothers in Qatif and probably Saudi Arabia as a whole, health education and improved care of the diabetic mothers during pregnancy urgently needed. This may be true of other developing countries where data on diabetes in pregnancy are scarce.

PIP: In Saudi Arabia, pediatricians compared data on infants of 52 mothers who received insulin therapy during pregnancy (group A) with data on infants of 81 mothers who either did not receive insulin therapy during pregnancy or prenatal care (group B) to evaluate the outcome in infants of diabetic mothers (IDMs) managed at Qatif Central Hospital. These 133 IDMs comprised 1.14% of the 11,677 deliveries at this hospital during 1988-92. 19.7% of all mothers had gestational diabetes mellitus. Mothers in group A were younger than those in group B (31.5 vs. 35.1 years; p 0.01). They were less likely than those in group B to suffer fetal loss (23.1% vs. 53.1%; p 0.001 and [mean fetal loss] 0.62 vs. 1.33; p 0.05). All six stillbirths (2 in group A and 4 in group B) were large for gestational age (LGA) (4.543 vs. 3.753 kg for overall birth weight; p 0.001). One stillbirth was macerated and had multiple congenital anomalies including Down's syndrome. Two liveborn IDMs also had Down's syndrome. There were no early neonatal deaths. The perinatal mortality rate (PMR) was not significantly different between the groups, but the PMR for both groups was higher than it was for the same period for the hospital overall (45.1 vs. 16.6/1000; p 0.02). 57.9% of IDMs from both groups were LGA. 38.6% of all IDMs had a blood glucose level less than 30 mg/dl. Other problems identified in IDMs included bacterial infections, birth trauma, preterm delivery, respiratory distress, polycythemia, and anemia. These findings suggest that poor maternal diabetic control contributed to the high perinatal morbidity and mortality in IDMs. Health education and improved care of diabetic pregnant women are seriously needed.

Splenectomy and acute splenic sequestration crises in sickle cell disease.

Acute splenic sequestration crises (ASSC) is one of the complications of sickle cell disease (SCD) that can be life-threatening due to loss of blood volume. Over a 5-year period, we have treated 19 patients ranging in age from 4 to 32 years with ASSC. There were 14 males and 5 females; 17 had homozygous SCD and the other 2 had sickle thalassemia. Two patients presented with severe anemia and acute circulatory collapse; 1 of them developed residual weakness of his limbs and decreased visual acuity. Nine patients underwent splenectomy after major episodes of sequestration while the remaining 10 had recurrent minor episodes of sequestration. The clinical features and the role of splenectomy are discussed.

Cholelithiasis in children with sickle cell disease.

Abdominal ultrasonography was performed on 305 children with sickle cell disease (SCD) (285 SS and 20 S-beta-thalassemia) to establish the prevalence of cholelithiasis in Saudi children with SCD. Their ages ranged from 1 to 18 years (mean 10.45 years). Gallstones were demonstrated in 60 children, giving a prevalence of 19.7%. An additional 50 patients (16.4%) had only biliary sludge. The youngest patient with gallstones was 3 years old. There was a correlation between the presence of gallstones and increasing age. Patients with gallstones were also found to have higher serum bilirubin levels, but their hemoglobin, hematocrit, reticulocyte count, hemoglobin S, and hemoglobin F levels were not significantly different from those of patients without gallstones.

The patterns of oropharyngeal microflora in patients with homozygous sickle cell disease.

A controlled prospective study was carried out between 16 July 1991 and 31 January 1992 to evaluate the oropharyngeal flora in homozygous sickle cell disease (SS). Throat swabs for cultures were taken from 163 asymptomatic SS patients attending sickle cell clinics (90 children and 73 adults). Throat swabs were also taken from 84 asymptomatic healthy individuals as a control group (44 children and 40 adults). Group A beta hemolytic Streptococci were isolated from 16.6% of children with SS compared to 4.5% of children without SS (P<0.05). Staphylococcus aureus was isolated from 16.4% of adults with SS compared to 0% of adults without SS (P<0.0001). Group G beta hemolytic Streptococci and nongroupable Streptococci were also isolated from 11% and 13.7% of adults with SS compared to 0% and 2.5% of adults without SS respectively. Several other organisms were isolated only from SS patients. We conclude that the oropharyngeal flora of patients with SS is disturbed. This disturbance may contribute to morbidity of these patients.

Osteomyelitis and septic arthritis in sickle cell disease in the eastern province of Saudi Arabia.

Patients with sickle cell disease are more susceptible to osteomyelitis and septic arthritis than the population at large. Seventy eight patients with these conditions were admitted to our hospital from April 1988 to March 1991. Thirty had sickle cell disease, 14 had the sickle cell trait and 34 had normal electrophoresis. The tibia, followed by the femur and humerus were the bones most commonly affected, and the knee was the joint most often involved. Salmonella was the commonest organism in osteomyelitis and septic arthritis in sickle cell disease, whereas staphylococcus was commonest in normal patients and those with the sickle cell trait. Antibiotics that cover these two organisms must be considered in patients with sickle cell disease who are suspected of having osteomyelitis or septic arthritis.

Psychosocial and economic profile of a sample of families with thalassaemic children in Lebanon.

Thalassaemia major is a relatively common disease in Lebanon. This study of 41 families with 54 patients attending the American University of Beirut Medical Center was conducted to define some aspects of the disease in Lebanon and to assess the attitudes of affected families on relevant psychosocial and economic issues. We conclude that because of the high frequency of consanguineous marriage, thalassaemia major is more common in Lebanon than might be expected on the basis of the incidence of the trait. Most patients are diagnosed early in life, but their treatment is generally far from adequate; securing desferrioxamine and paying for follow up visits to the doctor seem to be the most important financial burdens. The general population of the country is not properly informed yet and about 70% of the families had not heard about the disease before having an affected child. The inherited nature of the disease is not clear in the minds of a high percentage of the families, and in about 30% of cases the family had not been told about the advisability of screening to detect heterozygotes. The great majority of families favour a preventive approach to thalassaemia, based on heterozygote screening and the possibility of prenatal diagnosis.