Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1: C.119_121delCCA Mutation and HBA2: C.*94A > G Mutation.

Alpha and Beta Thalassemia are autosomal recessive anemias that cause significant morbidity and mortality worldwide, especially in the Middle East and North Africa (MENA) region where carrier rates reach up to 50%. We report the case of two siblings of Palestinian origin born who presented to our tertiary healthcare center for the management of severe transfusion dependent hemolytic anemia. Before presentation to our center, the siblings were screened for a-thalassemia using the Alpha-globin StripAssay. They were found to carry the α2 polyA-1 [AATAAA > AATAAG] mutation in the heterozygous form, which was insufficient to make a diagnosis. No pathogenic variants were detected on Sanger sequencing of the HBB gene. Full sequencing of the a-gene revealed compound heterozygous variants (HBA1:c.119_121delCCA and the previously detected HBA2:c.*+94A > G Poly A [A->G]) with trans inheritance. This report highlights the impact of non-deletional mutations on α-globin chain stability. The compound heterozygosity of a rare α-globin chain pathogenic variant with a polyadenylation mutation in the probands leads to clinically severe a-thalassemia. Due to the high carrier status, the identification of rare mutations through routine screening techniques in our populations may be insufficient. Ongoing collaboration among hematologists, medical geneticists, and counselors is crucial for phenotypic-genotypic correlation and assessment of adequate genetic testing schemes.

Cardiac Manifestations in COVID-19 Patients: A Focus on the Pediatric Population.

BACKGROUND: SARS-CoV-2 is a new strain of the coronavirus family that emerged by the end of 2019 and led to the unpreceded COVID-19 pandemic. The virus affects multiple organs simultaneously and leads to a high rate of morbidity and mortality in all age groups. The cardiovascular system is one of the major affected organ systems. Various mechanisms including direct myocardial injury contribute to the cardiac manifestations of COVID-19 patients. METHODS: We performed a comprehensive and updated search on the cardiac manifestations of COVID-19. Our search included laboratory and imaging evaluations. In addition, we added a unique section on the effect of SARS-CoV-2 on the cardiovascular system in the pediatric population. RESULTS: COVID-19 might have an effect on the cardiovascular system at various levels leading to myocardial ischemia, arrhythmia, heart failure, myocarditis, and multisystem inflammatory syndrome in children. The incidence of cardiovascular complications varies among patients. This paper also provides a comprehensive summary of all the reported pediatric cases with cardiac manifestations. CONCLUSION: Multidisciplinary teams are crucial for adequate management of patients with COVID-19 regardless of age. Timely diagnosis is critical in reducing mortality.

Cardiac involvement in a child post COVID-19: a case from Lebanon.

We report on an 8-year-old boy, who presented to the emergency department at our institution with fever, generalised oedema and hypotension. Investigations revealed anaemia, thrombocytopenia in addition to elevated serum inflammatory markers, a negative COVID-19 PCR test and a positive COVID-19 IgG. His echocardiography was consistent with carditis in otherwise morphologically normal heart with depressed cardiac function, moderate-to-severe mitral valve regurgitation, moderate tricuspid regurgitation with an estimated right ventricular systolic pressure half systemic, trace aortic regurgitation, bilateral small pleural effusions, distended inferior vena cava and normal coronaries. He was started on inotropic support, intravenous immunoglobulin and methylprednisolone, and was transferred to the paediatric intensive care unit. To the best of our knowledge, this was the first case of multisystem inflammatory syndrome in children encountered in Lebanon. The presentation and management were thoroughly described in this article aiming to share our experience and to contribute to the rapidly emerging literature on this syndrome.