TYPES OF BETA
DEFINING β‑THALASSEMIA BASED ON SYMPTOMS
DID YOU KNOW?
β‑thalassemia may also be described as Mediterranean Anemiaa condition where there aren’t enough healthy red blood cells to carry adequate oxygen to the body's tissues or Cooley’s anemia.
DEFINING β‑THALASSEMIA BASED ON GENOTYPE
Understanding your Genotypeyour genetic makeup for any trait, which may be labelled with a pair of letters, each representing the copy of a gene inherited from one of your parents can be important to help understand and talk about your thal. There are nearly 200 different changes in the HBB gene that can cause β‑thalassemia. The different changes are grouped and represented by one of the letters shown below. When paired, these letters then create a genotype: β0, β+, and βE.
- β0: no β‑globin is produced
- β+: a reduced amount of β‑globin is produced
- βE: a reduced amount of β‑globin is produced and the type of Hemoglobina protein in your red blood cells that helps carry oxygen throughout your body; healthy adult hemoglobin contains iron and a balanced amount of β‑globin and α-globin is also affected; this genotype is most common in Southeast Asia
People with β‑thalassemia can have any mix of the three genotypes above. They may have two copies of β0 (known as a β0/β0 genotype), one copy (known as a β0/non‑β0 genotype), or no copies of β0 (known as a non-β0/non-β0 genotype).
Your genotype can be determined by a blood test and may help your doctor with treatment decisions. Many people with β‑thalassemia find out their genotype when they are first diagnosed. If you’re not sure what your genotype is, you can ask your doctor.
DEFINING β‑THALASSEMIA: TRANSFUSION DEPENDENT OR NON-TRANSFUSION DEPENDENT
There are people living with β-thalassemia who receive regular Red Blood Cella hemoglobin-containing cell that carries oxygen throughout your body transfusions to help make up for their lack of healthy red blood cells. Some doctors are starting to categorize β‑thalassemia based on whether or not a person depends on regular blood transfusions to survive and function. If a person needs regular blood transfusions, it is sometimes called transfusion-dependent β‑thalassemia, or TDT. For people who do not receive regular transfusions, the term non-transfusion dependent β-thalassemia (or NTDT) may be used.
To summarize, there are three different ways to describe β‑thalassemia:
- Three historical types (thalassemia major, thalassemia intermedia, thalassemia minor)
- TDT or non-TDT
“Traveling with my husband is the best thing in the world to me. I love that he’s adventurous like me, but I feel like I hold him back because of my thalassemia. I start to get tired when it seems like he could be out for hours. I’m going to talk to my doctor about planning for my tomorrow.”
DIAGNOSIS AND TESTING FOR β‑THALASSEMIA
Doctors can diagnose β‑thalassemia based on symptoms and through the use of blood tests, including complete blood count (CBC) and hemoglobin tests:
- A CBC measures the amount of hemoglobin and different kinds of blood cells, including white blood cells, platelets, and red blood cells in the blood. People with β‑thalassemia may have fewer and smaller healthy red blood cells and less hemoglobin than normal.
- Hemoglobin tests measure the types of hemoglobin in a blood sample. Those with β‑thalassemia may show problems with the β‑globin Proteinthe working component of your cells that is required for the structure, function, and regulation of your body's tissues and organs of the hemoglobin.