Hemoglobin Abnormalities: What Are They and Why Do They Matter
Hemoglobin is a critical protein found in red blood cells that carries oxygen from the lungs throughout the body and returns carbon dioxide to the lungs to be exhaled. When something goes wrong with hemoglobin—its form, its production, or its function—it can lead to serious diseases collectively referred to as hemoglobinopathies or hemoglobin abnormalities.
In this article, we’ll explain what these abnormalities are, the most common types, their causes, symptoms, and how they are diagnosed and managed.
What Are Hemoglobin Abnormalities?
Hemoglobin abnormalities refer to genetic disorders that affect the quantity or quality of hemoglobin in the blood. These abnormalities are usually inherited and can impact a person’s ability to carry oxygen efficiently throughout the body.
There are two major categories:
Quantitative abnormalities (e.g., Thalassemia) – where hemoglobin is produced in lesser amounts.
Qualitative abnormalities (e.g., Sickle Cell Disease) – where the structure of hemoglobin is altered, and its function gets compromised.
Common Types of Hemoglobin Abnormalities
1. Sickle Cell Disease (SCD)
Cause: Abnormality in the β-globin gene leads to production of abnormal hemoglobin S.
Effect: Red blood cells are sickle-shaped, stiff, and sticky, leading to blockage of blood vessels.
Symptoms: Pain crises, anemia, fatigue, infections, and damage to organs.
Prevalence: More common in people of African, Mediterranean, Middle Eastern, and Indian origin.
2. Thalassemia
Cause: Genetic mutations reduce or obliterate production of either α- or β-globin chains.
Types:
Alpha Thalassemia: Affects the α-globin chains.
Beta Thalassemia: Affects the β-globin chains.
Symptoms: Mild to serious anemia, deformities of the bones, delays in growth, and enlarged spleen.
Prevalence: More common in people of Mediterranean, African, Middle Eastern, and Southeast Asian origin.
3. Hemoglobin C, D, E, and others
These are less common structural hemoglobin variants.
Some, like Hemoglobin C, may cause mild anemia and splenomegaly.
Others may be silent (asymptomatic) or symptomatic only when inherited with another abnormal gene (e.g., Hemoglobin SC disease).
How Are Hemoglobin Abnormalities Diagnosed?
Diagnosis is typically accomplished through:
Complete Blood Count (CBC): Indicates anemia and red cell defects.
Hemoglobin Electrophoresis: Identifies types and amounts of hemoglobin.
Genetic Testing: Reveals specific mutations in globin genes.
Newborn Screening: Sickle cell disease and thalassemia are detected in most countries at birth.
Signs to Note
While signs vary based on the severity and type, they include:
Recurrent fatigue or weakness
Shortness of breath
Whiteness or yellowish color
Sustained infections
Delayed growth or puberty in children
Bone pain or deformation
Splenomegaly or hepatomegaly
Management and Treatment
No single cure is available for most hemoglobinopathies, but effective management can dramatically improve quality of life. Management can include:
Folic acid supplementation
Blood transfusions (especially in thalassemia major)
Hydroxyurea (often used in sickle cell disease)
Bone marrow or stem cell transplant (potentially curative for a few)
Gene therapy (hope for the future)
Supportive management: Pain relief, immunization, infection prevention
Living with Hemoglobin Disorders
With early diagnosis and proper medical care, the majority of hemoglobin disorder sufferers live normal, active lifestyles. Precautions should be taken to:
Schedule regular check-ups with a hematologist
Monitor iron levels regularly, if transfusions are being received
Stay active and well-hydrated
Avoid high altitudes or low-oxygen zones (in sickle cell disease)
Have genetic counseling if there is family history
Conclusion
Hemoglobin abnormalities are complex, but with increased awareness, early diagnosis, and improved treatment, the person suffering from these abnormalities has a brighter future. If you or someone close to you exhibits signs of anemia or a history of blood disease in the family, discuss screening and treatment with a health care provider.
