Hemoglobinopathy is a group of diseases caused by genetic defects (autosomal dominant inheritance) leading to abnormal structure or impaired synthesis of globin peptide chains, where one or more structurally abnormal hemoglobins partially or completely replace normal hemoglobin. To date, over 400 types of structural hemoglobinopathies and more than 100 types of thalassemia have been identified, but only a few present significant pathological manifestations. This section discusses the manifestations and management of severe thalassemia.

bubble_chart Diagnosis

(1) Medical history and symptoms:

⑴ History inquiry: Note: ① Whether parents or family members have the same condition. ② Age of onset. ③ Growth and development status.

⑵ Clinical symptoms: General anemia symptoms, poor appetite, developmental delay, possible diarrhea and susceptibility to infections.

(2) Physical examination findings

In addition to anemic appearance, there may be grade I jaundice, prominent cheekbones, flattened nasal bridge, widened interorbital distance, arrhythmia, enlarged cardiac dullness, hepatomegaly, and splenomegaly.

(3) Auxiliary examinations

1. Blood test: Hemoglobin is mostly<60g/L，呈小細胞低色素性貧血，紅細胞大小形態不一，靶形紅細胞多>10%, with visible red blood cell fragments. Increased reticulocytes. Inclusions present in red blood cells. White blood cells and platelets are normal or decreased.

2. Bone marrow examination: Hypercellularity with prominent erythroid hyperplasia. Increased extracellular iron and sideroblasts.

3. Hemoglobin electrophoresis: Hemoglobin F >30% (severe β-thalassemia). Hemoglobin Bart >80% (hemoglobin Bart fetal edema syndrome); presence of hemoglobin H band (hemoglobin H disease).

(4) Differential diagnosis

Should be distinguished from iron-deficiency anemia and other hemoglobinopathies.

bubble_chart Treatment Measures

Blood transfusion: Regular blood transfusion should be performed when hemoglobin is below 80g/L to maintain hemoglobin above 80g/L. When high-volume transfusion therapy is adopted, hemoglobin should be maintained above 100g/L.

Splenectomy: Splenectomy should be performed for patients with hypersplenism, compression symptoms caused by massive splenomegaly, or increased transfusion requirements. The risk of infectious complications after splenectomy can be significantly reduced after the age of 4.

Chelation therapy: Deferoxamine: 1.5-2.0g/day, subcutaneous injection, or 3-4g/day, intravenous infusion, lasting 18-20 hours. Vitamin C 150-300mg/day, orally.

Bone marrow transplantation: Bone marrow transplantation should be performed for eligible patients.