Understanding Sickle cell disease: Causes, symptoms, and treatment options

2023/09/22 by Chukwuka Elendu, Dependable C. Amaechi, Chisom E. Alakwe-Ojimba +6 · 149 citations
Medicine · #Acute chest syndrome #Anemia #Blood groups and transfusion #Disease #Fetal hemoglobin #Fetus #Hemoglobin #Hemoglobinopathies and Related Disorders #Intensive care medicine #Internal medicine #Iron Metabolism and Disorders #Medicine #Pediatrics #Pregnancy #Sickle cell anemia

paper · doi:10.1097/md.0000000000035237

published in Medicine 102(38), e35237 (Wolters Kluwer)

openalex publication_date 2023/09/22 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/06

Abstract

Sickle cell disease (SCD) is a hereditary blood disorder characterized by the production of abnormal hemoglobin molecules that cause red blood cells to take on a crescent or sickle shape. This condition affects millions of people worldwide, particularly those of African, Mediterranean, Middle Eastern, and South Asian descent. This paper aims to provide an overview of SCD by exploring its causes, symptoms, and available treatment options. The primary cause of SCD is a mutation in the gene responsible for producing hemoglobin, the protein that carries oxygen in red blood cells. This mutation has abnormal hemoglobin called hemoglobin S, which causes red blood cells to become stiff and sticky, leading to various health complications. Patients with SCD may experience recurrent pain, fatigue, anemia, and increased infection susceptibility. Treatment options for SCD focus on managing symptoms and preventing complications. This includes pain management with analgesics, hydration, and blood transfusions to improve oxygen delivery. Hydroxyurea, a medication that increases the production of fetal hemoglobin, is commonly used to reduce the frequency and severity of pain crises. Additionally, bone marrow or stem cell transplants can cure select individuals with severe SCD. Finally, understanding the causes, symptoms, and treatment options for SCD is crucial for healthcare professionals, patients, and their families. It enables early diagnosis, effective symptom management, and improved quality of life for individuals with this chronic condition.

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