Work

Red cell membranopathies: Case series and review of literature

Year: 2024

Type: article

Abstract: Inherited disorders affecting the red blood cell (RBC) membrane result from mutations in membrane or skeletal proteins. Such mutations can impede red cell deformability, leading to a shortened lifespan and early removal of erythrocytes from circulation. This, in turn, results in anemia and jaundice. Hereditary spherocytosis (HS), hereditary elliptocytosis, hereditary ovalocytosis, and hereditary stomatocytosis are examples of these disorders, with HS being the most prevalent form of inherited hemolytic anemia. Disorders of the RBC membrane may stem from structural or transport functional changes, but they inevitably lead to clinical symptoms of hemolytic anemia. Accurate diagnosis is crucial to avoid complications or inappropriate treatment as management varies depending on pathophysiology. In this review, we describe few cases of different types of RBC membrane disorders with variable age of presentation, emphasizing the significance of correct approach, limitations of certain investigations and the need for genetic test to reach a precise diagnosis.

Source: Pediatric Hematology Oncology Journal

DOI: 10.1016/j.phoj.2024.02.003

Authors: Ratna Sharma, Amit Jain

Institution: Brihanmumbai Municipal Corporation

Language: English

Topic: Erythrocyte Function and Pathophysiology

Subfield: Physiology (medical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600