Consensus-Based Expert Recommendations on the Management of Hemophilia A in the Gulf Region.

BACKGROUND: Hemophilia A presents a significant health challenge in the Gulf region, where it has an especially high prevalence. There are several unmet needs associated with the management of hemophilia A in the region. The aim of this manuscript was to contextualize unmet management needs, provide recommendations to optimize care, and specify requirements for the establishment of gene therapy centers in the region. SUMMARY: An expert panel was assembled comprising ten clinical hematologists from Kuwait, Oman, Saudi Arabia, and the UAE. The Delphi methodology was used to obtain a consensus on statements relating to several aspects of hemophilia A. A consensus was reached for all statements by means of an online, anonymized voting system. The consensus statements pertain to screening and diagnosis, treatment approaches, and requirements for the implementation of gene therapy. KEY MESSAGES: There are significant challenges that hinder the optimal management of hemophilia A in the Gulf region. The consensus statements presented provide specific recommendations to improve diagnostic and treatment approaches, promote multidisciplinary care, and optimize regional data generation and reporting. These statements also delineate the requirements for the establishment of gene therapy centers for hemophilia A in the region.

Transcranial Doppler and brain MRI in children with sickle cell disease and high hemoglobin F levels.

BACKGROUND/OBJECTIVE: While overt stroke and silent brain infarcts (SBI) are uncommon among Kuwaiti patients with sickle cell disease (SCD), there have been no previous transcranial Doppler (TCD) studies in this population. The main objective of this study is to determine TCD velocities in a group of Kuwaiti children with SCD and correlate same with brain magnetic resonance imaging (MRI) and angiography (MRA) findings. MATERIALS AND METHODS: Forty-three steady-state, pediatric patients with SCD aged 10.1 ± 3.9 years (21 SS, 19 Sß(0)Thal, and 3 SD) were studied. Twenty-six age-matched, normal siblings of the patients served as controls. TCD was performed using a General Electric (GE), Vivid 3 equipment and MRI/MRA with a GE Signa Excite HD 1.5 Tesla magnet. Complete blood count was with an electronic counter and Hb quantitation with cation-exchange high performance liquid chromatography (HPLC). RESULTS: The mean time-averaged mean of the maximum velocity (TAMV) was significantly higher in the SCD group than the controls, but was normal (<170 cm/second) in all. The mean values were comparable among the SS and Sß(0)thal groups. Five (11.1%) patients had SBI and all were between 12 and 16 years of age. There was no significant difference of TAMV in this group compared to those without infarcts. No patient showed evidence of stenosis or any other abnormalities in the circle of Willis vessels. CONCLUSION: The mild phenotype among Kuwaiti patients with SCD is reflected in normal TCD velocities and a low prevalence of SBI in children with the disease.

Infectious etiologies of transient neutropenia in previously healthy children.

BACKGROUND: Healthy children presenting with neutropenia are often hospitalized and treated empirically with antibiotics without an evidence of infection. The objective of this study was to investigate the infectious causes of isolated transient neutropenia in otherwise previously healthy children. METHOD: A 2-year prospective study was conducted at a tertiary hospital in Kuwait. All previously healthy children (aged 1 month to 12 years) hospitalized with isolated neutropenia defined as absolute neutrophil count (ANC) ≤ 1.5 × 10/L were enrolled in the study. Investigations to identify the infectious causes included blood and urine culture for bacteria whereas for viruses, serology for Epstein-Barr virus, cytomegalovirus, adenovirus, parvovirus and polymerase chain reaction for human herpes virus 6 and enterovirus were performed. RESULTS: Fifty-five children were enrolled during the study. Children less than 2 years of age constituted 73% of the sample. There were 2 peaks of presentation: March-May (33%) and September-November (38%). Associated features were congested throat (56%), runny nose (53%) and cervical lymphadenopathy (20%). The median ANC on admission was 0.6 × 10/L. Associated infections were documented in 55% of enrolled children and were as follows: human herpesvirus 6, 30%; enterovirus, 23%; influenza A H1N1, 13%; parvovirus, 10%; Epstein-Barr virus, 10%; urinary tract infection, (Eshcherichia coli) 7%; and adenovirus, 7%. No serious bacterial infection was identified, and the mean time for recovery of the ANC was 16.7 ± 15 days. CONCLUSIONS: Neutropenia in previously healthy children in Kuwait is caused by demonstrable infections in 55% of cases. Majority of children will recover their ANC completely within 1 month without significant infectious complications.

Does elevated hemoglobin F modulate the phenotype in Hb SD-Los Angeles?

Hemoglobin (Hb) SD-Los Angeles compound heterozygotes usually have a severe clinical course although the effect of an elevated Hb F on the clinical phenotype has not been reported previously. We describe 5 Kuwaiti children with Hb SD associated with Hb F levels >20%. They all presented with sickling-related symptoms by < or =2 years of age and have been followed for 3-15 years. All had severe clinical courses marked by varying degrees of splenic sequestration crises, acute chest syndrome, vaso-occlusive crises, osteomyelitis and avascular necrosis of the femoral head. This pattern is in contrast with the usually mild presentation in Kuwaiti Hb SS patients with elevated Hb F. It therefore appears that Hb F does not ameliorate the clinical phenotype in Hb SD-Los Angeles. The reasons for this are not quite clear.

Paraspinal synovial sarcoma as an unusual postradiation complication in pediatric abdominal neuroblastoma.

SUMMARY: The development of a soft-tissue sarcoma is an infrequent but well-known long-term complication of radiotherapy. Malignant fibrous histiocytomas, extraskeletal osteosarcomas, fibrosarcomas, malignant peripheral nerve sheath tumors, and angiosarcomas are most frequently encountered. Radiation-associated synovial sarcomas are uncommon and exceedingly rare in pediatric patients. We report an unusual case of paraspinal synovial sarcoma presenting in an adolescent female 13 years after radiation therapy for her neuroblastoma.