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Other symptoms of thalassemia include bone problems, an enlarged spleen, yellowish skin, pulmonary hypertension, and dark urine. [1] Slow growth may occur in children. [1] Clinically, thalassemia is classed as Transfusion-Dependent Thalassemia (TDT) or non-Transfusion-Dependent Thalassemia (NTDT), since this determines the principal treatment ...
In adults alpha thalassemia manifests as HbH disease. In this, excess beta-globin forms β 4 -tetramers, which accumulate and precipitate in red blood cells, damaging their membranes. Damaged RBCs are removed by the spleen resulting in moderate to severe anemia.
The condition is called alpha thalassemia trait; two α genes permit nearly normal production of red blood cells, but a mild microcytic hypochromic anemia is seen. The disease in this form can be mistaken for iron-deficiency anemia and treated inappropriately with iron. [3] [1] Alpha-thalassemia trait can exist in two forms: [1]
Alpha-thalassemia (α-thalassemia) is a form of thalassemia involving the genes HBA1 [20] and HBA2. [21] It is condition that causes a reduction of hemoglobin production. There are two types of Alpha-thalassemia, named hemoglobin Bart hydrops fetalis syndrome (also known as Hb Bart syndrome) and HbH disease. [22] Anemia: D50-D64: 663
Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes.
Family history and ancestry are factors that increase the risk of beta thalassemia. Depending on family history, if a person's parents or grandparents had beta thalassemia major or intermedia, there is a 75% (3 out of 4) probability (see inheritance chart at top of page) of the mutated gene being inherited by an offspring.
Common symptoms include fever, fast heart rate, rapid breathing, confusion and body pain, according to the World Health Organization. A life-threatening medical emergency like a heart attack or ...
Symptoms may vary based on the severity of the condition and the most common symptom is fatigue. [3] Various diseases can lead to transfusion-dependent anemia, most notably myelodysplastic syndromes (MDS) and thalassemia. [4] [5] Due to the number of diseases that can cause transfusion-dependent anemia, diagnosing it is more complicated ...