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.     

Sickle cell disease: Reducing the global disease burden

Sickle cell disease has been largely an invisible global health issue, especially in regions of high incidence mainly due to lack of awareness among both the local health policy makers and the public. Public health interventions, such as screening of newborns, provision of prophylaxis against bacterial infections, and immunizations against pneumococcal infections can have the greatest impact. Family education on assessment of spleen size and subsequent detection of splenic sequestration and promptness to seek medical attention for a febrile child is also important in the control of the morbidity and mortality of children with SCD living in resource‐poor countries. In addition to these affordable interventions, hydroxyurea therapy is necessary to decrease both the acute and chronic complications of sickle cell anemia. Sickle cell disease has been recognized to have global health significance by key institutions including the World Health Organization in 2006 and the United Nation is 2008. In 2010, the WHO released national health care management goals and set targets to be achieved by the countries in sub‐Saharan Africa for the control and management of SCD. These are yet to be translated into action. To do, this would require active and sustainable public‐private partnerships for sustainable program development in these regions. Effective interventions should be integrated into existing health systems, the best examples linking primary healthcare facilities to specialized sickle cell disease centers in regional and tertiary healthcare institutions.     

Sickle cell disease: clinical management

Sickle cell syndromes are a group of inherited disorders of haemoglobin structure that have no cure in adults at the present time. Bone marrow transplantation in children has been shown to be curative in selected patients. The phenotypic expression of these disorders and their clinical severity vary greatly among patients and longitudinally in the same patient. They are multisystem disorders and influence all aspects of the life of affected individuals including social interactions, family relations, peer interaction, intimate relationships, education, employment, spiritual attitudes and navigating the complexities of the health care system, providers and their ancillary functions. The clinical manifestations of these syndromes are protean. In this review emphasis is placed on four sets of major complications of these syndromes and their management. The first set pertains to the management of anaemia and its sequelae; the second set addresses painful syndromes both acute and chronic; the third set discusses infections; the fourth section deals with organ failure. New experimental therapies for these disorders are briefly mentioned at the end. Efforts were made to include several tables and figures to clarify the message of this review.     

Sickle cell disease: current clinical management

The phenotypic expression of sickle cell disease (SCD) varies greatly among patients and longitudinally in the same patient. The phenotype influences all aspects of the life of affected individuals including social interactions, intimate relationships, family relations, education, employment, and spirituality. The clinical, manifestations of SCD are protean and fall into three major categories: (1) anemia and its sequelae; (2) pain and related issues; and (3) end-organ failure including infection. This review will emphasize the pathophysiology and management of sickle cell pain, as well as organ failure and its management.     

Sickle cell disease in India

The clinical manifestations of sickle cell anemia in India seem to be milder than in Africa and Jamaica. Mostly homozygous sickle cell anemia patients seek treatment for vaso-occlusive crises, which have greatest incidence during the rainy season, followed by winter. It is interesting to note that both sickle cell anemia patients and carriers (heterozygotes) have iron deficiency. alpha Thalassemia is one of the major epistatic factors responsible for amelioration of the disease. Simple measures like vaccination in childhood, adequate oral intake of fluids with electrolytes during vaso-occlusive crises, and avoidance of exposure to extreme temperatures reduce the number of patients with vaso-occlusive crises. Premarital counseling and prenatal diagnosis also help reduce the number of births of homozygous children.     

Sickle cell disease in India

Five cases of sickle cell disease are reported with complete clinical, hematologic and genetic studies. Four were cases of sickle cell anemia and onehad sickle cell thalassemia. The importance of the presence of a focus ofsickling in this area has been discussed.

Submitted on March 22, 1957 Accepted on January 15, 1958     

Sickle cell disease in Africa

Africa is the main birthplace of sickle mutations; the number of newborns affected by sickle cell disease is estimated at 200,000 per year. However, because of low family income and public health funding and, to a lesser extent, because of local beliefs about sickle cell disease, overall treatment of patients is still poor and, in some places, inadequate. Efforts to adapt therapeutic options and overcome difficulties are presented and analyzed.     

Sickle cell disease and malaria

Malaria is most common infectious disease spread by female Anopheles mosquitoes especially in tropical and subtropical areas of the world. It is reported by WHO as a 4th leading cause of death in children across the developing countries. Unfortunately no vaccine is currently available. Sickle cell trait (HbAS) patients provide some resistance for malaria over normal persons (HbAA) or their homozygous state (HbSS) due to various reasons.     

Sickle cell disease and hemochromatosis

A 50 year-old patient with sickle cell anemia was seen who had received only two units of blood during his lifetime. He had marked iron overloading, cirrhosis of the liver, arthralgia, and mild glucose intolerance. We believe the iron overloading was associated with hereditary hemochromatosis rather than sickle cell anemia because he had HLA-A3 and B7 antigens, and hepatic iron deposits were primarily in parenchymal cells rather than Kupfer cells. The coexistence of either homozygous or heterozygous hemochromatosis should be suspected in sickle cell patients with organ damage from iron overloading.