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.

A Rapidly Enlarging Asymptomatic Parapneumonic Effusion: A Case Report.

A pleural effusion is an accumulation of fluid in the pleural space due to an imbalance between formation and removal. They're commonly caused by heart failure or infections. We report a case of a 56-year-old male with community-acquired pneumonia and a trace pleural effusion on presentation. Despite clinical improvement with antibiotic therapy, the effusion significantly increased on day two. This case report is unique because the patient had an enlarging effusion, but remained asymptomatic and denied worsening shortness of breath, chest pain, or cough. The patient was treated successfully with chest tube placement and intrapleural fibrinolytic therapy. This report emphasizes the importance of repeat imaging for asymptomatic parapneumonic effusions (PPE) that can complicate community-acquired pneumonia. We aim to raise awareness of the atypical presentation and management of parapneumonic effusions through a case report.