Autosomal Recessive HemoglobinopathyAutosomal Recessive (1 in 4 chance when both parents are carriers)

Sickle Cell Disease

Drepanocytosis / Hemoglobin S (HbS) Hemoglobinopathy

Molecular Pathology: Valine substitution for glutamic acid at codon 6 of β-globin chain

Comprehensive Medical Definition

Sickle Cell Disease (SCD) is an inherited red blood cell disorder caused by a single point mutation in the beta-globin gene on chromosome 11. Under deoxygenated conditions, abnormal hemoglobin molecules (HbS) polymerize into long, stiff rods within red cells, stretching them into rigid, crescent-like 'sickles.' Unlike normal flexible erythrocytes that glide effortlessly through capillaries, sickle cells become sticky and fragile, clogging microvascular blood vessels, impeding oxygen delivery, and prematurely breaking down within 10 to 20 days.

Clinical Presentation & Primary Symptoms

Severe episodic vaso-occlusive bone and joint pain crises

Chronic hemolytic anemia, fatigue, and jaundice

Swelling of hands and feet (dactylitis) in infants

Frequent infections and spleen vulnerability (functional asplenia)

Delayed growth and pubertal maturation in adolescents

Treatment Protocols & Clinical Management

Daily disease-modifying Hydroxyurea therapy to boost protective Fetal Hemoglobin (HbF)
Daily prophylactic folic acid supplementation
Pneumococcal and meningococcal immunizations plus prophylactic penicillin
Rapid intravenous hydration and protocol-driven analgesia during vaso-occlusive crises
Safe, leukodepleted blood transfusions for acute chest syndrome or stroke risk
Curative Allogeneic Bone Marrow / Stem Cell Transplantation for eligible candidates

Potential Complications Requiring Vigilance

Acute Chest Syndrome (ACS) — life-threatening pulmonary vaso-occlusion

Silent cerebral infarcts and overt stroke in children

Avascular necrosis (AVN) of the femoral and humeral head

Chronic kidney disease and retinopathy

Splenic sequestration and functional asplenia

DIAGNOSTIC PROTOCOL

Gold Standard Screening

Automated High-Performance Liquid Chromatography (HPLC) & Confirmatory Genetic Testing

NASTC facilitates mobile HPLC diagnostic camps across all 30 districts of Odisha.

UDID Card & Rights

Government Welfare Entitlement

Classified as a benchmark disability under the Rights of Persons with Disabilities (RPwD) Act, 2016. Entitled to official Government UDID Cards, medical travel concessions, and educational scholarships.

Read About Our UDID Card Milestone

PREVENTION STRATEGY

Premarital Carrier Screening

Universal premarital carrier screening with HPLC testing prevents carrier-to-carrier marriages, safeguarding future generations against inheriting clinical sickle cell disease.