Blood Demand and Challenges for Patients With Beta-Thalassemia Major in Eastern Saudi Arabia.

Background ß-thalassemia major is a hereditary disorder of hemoglobin (Hb) that results in defective Hb synthesis, leading to severe chronic anemia. The mainstay of its treatment is lifelong regular packed red cell transfusions associated with iron-chelating therapy. Globally, there is a gap between blood donation and the actual needs of the patients who depend on transfusion. Patients with ß-thalassemia major are no exception and have limited access to regular and safe blood transfusions. This study aimed to assess the gap between the demand and supply of blood for transfusion-dependent patients with ß-thalassemia major treated at the Hereditary Blood Diseases Center, Al Ahsa, Eastern Saudi Arabia. Methodology This was a retrospective, cross-sectional study conducted at the Hereditary Blood Disease Center, Al Ahsa, Saudi Arabia, including patient data from January 2017 to December 2019. We used Excel 365 from Microsoft Office 2016, version 1706. Results A total of 158 patients were on chronic transfusion. Of the total patients, 65% were adults, while the remaining 35% comprised the pediatric population. The total number of units requested and received during the three-year period was 14,509 and 9,530, respectively, indicating a gap of 4,979 (34%) units. The age of most of the units received was more than 14 days: 36% of those in 2017, 49.9% in 2018, and 61.5% in 2019. Rare blood groups and alloimmunization accounted for <8% of the patients. Prestorage filtration was the policy for all units. Conclusions There was a gap between the demand and supply of blood for patients with ß-thalassemia major treated at our center. We suggest raising awareness regarding the high demands for fresh red blood cell components in patients with thalassemia major, encouraging voluntary blood donations, enhancing national blood-banking policies, and reducing the fragmentation of blood services to reduce the gap between demand and supply.

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency Among Children in Eastern Saudi Arabia.

Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzyme deficiency worldwide. The disease is widely distributed in regions where malaria is prevalent, affecting mostly males because the enzyme is inherited as an X-link recessive pattern. In Saudi Arabia, we lack newborn screening (NBS) for G6PD deficiency, despite early reports about high prevalence. Methods This is a 10-year retrospective study of children who were screened for G6PD deficiency during their hospitalization between January 2008 to December 2017. The test was carried out using a qualitative fluorescence test suitable for mass screening to determine the prevalence of G6PD deficiency among the admitted children between 0 and 14 years of age. Results A total of 48,889 patients were screened which included 27,634 (56.5%) males and 21,255 (43.5%) females with a mean age of 1.93 + 3.98 years. The overall prevalence of G6PD deficiency was 25%, whereas it was 33.8% in the male subset and 13.2% in the female subset. Male sex was significantly correlated with G6PD deficiency. A total of 25,628 newborns were screened, with 14,219 (55.5%) males and 11,409 (44.5%) females, who had a G6PD deficiency prevalence of 18.8%. There was a G6PD deficiency prevalence of 26% in males and 9.9% in females. Conclusion The present study confirms the high prevalence of G6PD deficiency in our community. Therefore, we need to establish an NBS program to screen for G6PD deficiency in order to prevent neonatal hyperbilirubinemia encephalopathy, avoidable hemolytic episodes, and to increase awareness among health practitioners.

Congenital sideroblastic anemia of a Saudi child.

Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

Infantile cortical hyperostosis - a report of Saudi family.

A 2-weeks-old Saudi neonate was apparently well till the 10th day of life when a swelling of the right groin was noted accompanied by irritability and fever, without history of trauma. On examination: the girl was irritable and febrile, the mass was firm, ill defined, fixed and tender. The state of the underlying skin was normal. There was family history of 3 siblings with similar swellings in the neonatal period and one of them had recurrence of the condition till the age of 7 year. The radiological findings indicated diaphysis hyperostosis, sparring of the epiphysis and the benign course of the disease. With exclusion of syphilis, osteomyelitis and trauma, the likely diagnosis would be infantile cortical hyperostosis. Such diagnosis should not be overlooked when faced by bony swellings in neonates.

Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area.

Thalassemia syndrome has diverse clinical presentations and a global spread that has far exceeded the classical Mediterranean basin where the mutations arose. The mutations that give rise to either alpha or beta thalassemia are numerous, resulting in a wide spectrum of clinical severity ranging from carrier state to life-threatening, inherited hemolytic anemia that requires regular blood transfusion. Beta thalassemia major constitutes a remarkable challenge to health care providers. The complications arising due to the anemia, transfusional iron overload, as well as other therapy-related complications add to the complexity of this condition. To produce this consensus opinion manuscript, a PubMed search was performed to gather evidence-based original articles, review articles, as well as published work reflecting the experience of physicians and scientists in the Arabian Gulf region in an effort to standardize the management protocol.