Thalassemia
Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment.
Classification
The classification of thalassemia is based on the specific globin chains that are affected. There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Here's a breakdown of the classification:
Silent Carrier: In this type, one or two of the four alpha globin genes are deleted or non-functional, but individuals usually have no symptoms or only mild anemia. Alpha Thalassemia Trait: Two of the four alpha globin genes are deleted or non-functional, resulting in mild anemia. Individuals may have no symptoms or experience mild symptoms. Hemoglobin H (HbH) Disease: Three of the four alpha globin genes are deleted or non-functional, causing moderate to severe anemia. Individuals may experience symptoms such as fatigue, paleness, and an enlarged spleen. Hemoglobin Bart's Hydrops Fetalis Syndrome: All four alpha globin genes are deleted or non-functional, resulting in a severe form of alpha thalassemia. This condition is usually fatal before or shortly after birth. Beta Thalassemia:
Beta Thalassemia Minor (Trait): One of the two beta globin genes is affected, leading to mild anemia. Individuals may have no symptoms or experience mild symptoms. Beta Thalassemia Intermedia: Both beta globin genes are affected, resulting in moderate to severe anemia. Individuals may require occasional blood transfusions but can often lead relatively normal lives. Beta Thalassemia Major (Cooley's Anemia): Both beta globin genes are severely affected, causing severe anemia. Individuals require lifelong, regular blood transfusions and ongoing medical management. Within the beta thalassemia category, there are additional subtypes and variations based on the specific genetic mutations present, such as beta+ and beta0 thalassemia.
It's important to note that thalassemia can have a wide range of severity, and the specific classification and management may vary depending on the individual's genetic mutations, symptoms, and medical needs.
Diagnosis
hair-on-end appearance (classic): unusual in patients after the age of nine in treated patients
widening of the diploic space
thinning of the inner and outer table
the occipital bone is spared, due to a lack of hemopoietic bone marrow