Thalassemia, also known as Mediterranean anemia, is a hemoglobin disorder caused by impaired synthesis of α or β polypeptide chains in hemoglobin, inherited as an autosomal incomplete dominant trait. This condition is more common in regions such as Guangdong, Guangxi, and Sichuan in China, but rare in provinces north of the Yangtze River. Based on the impaired synthesis of globin chains, thalassemia is generally classified into four types: β-type, α-type, δβ-type, and δ-type, with β-type and α-type being the most common. The β-type involves impaired β-chain synthesis, leading to increased HbF and/or HbA2, while the α-type involves impaired α-chain synthesis, resulting in HbH (β4) or HbBart's (γ4). Homozygotes exhibit typical symptoms, whereas heterozygotes show milder manifestations. The clinical presentations of all types of thalassemia are similar, and differential diagnosis relies on hemoglobin electrophoresis.

bubble_chart Clinical Manifestations

1. Mild: May be asymptomatic or only present with grade I anemia, with no splenomegaly or only grade I splenomegaly.
2. Severe: Exhibits chronic progressive anemia, pale complexion, listlessness, possible grade I jaundice, and developmental delays. Due to compensatory bone marrow hyperplasia in the craniofacial bones, a distinctive facial appearance develops: large head, flattened nose, widened inter-eyebrow distance, and prominent cheekbones. The heart may enlarge, and systolic murmurs may be heard in the precordial area. Both the liver and spleen are enlarged, with splenomegaly being particularly pronounced.

bubble_chart Auxiliary Examination

1. Blood picture: Shows microcytic hypochromic anemia, with anisocytosis, enlarged central pallor, and the presence of numerous target cells, nucleated red blood cells, and basophilic stippling cells. Reticulocyte count is increased. Red cell osmotic fragility is decreased.
2. Bone marrow findings: Erythroid hyperplasia is observed, with a predominance of intermediate and late-stage normoblasts. Changes may be mild or absent in less severe cases.
3. Hemoglobin analysis:
   1. HbF measurement: Significantly elevated in severe β-thalassemia, serving as a key diagnostic criterion.
   2. Hemoglobin electrophoresis: In β-thalassemia, HbA2 >3% can be detected, with a markedly increased HbA2/HbA ratio. In α-thalassemia, HbH or Hb Bart's may be identified.
   3. Bart's acid elution test: Due to the acid resistance of HbF, red cells containing HbF retain their hemoglobin when exposed to acid and stain bright red.
   4. Inclusion body test: Some cases of α-thalassemia may show HbH inclusion body-positive red cells.
4. Skeletal X-ray examination: In severe β-thalassemia, findings may include osteoporosis, thinning of the cortex, widened medullary cavities, thinning of the inner and outer tables of the skull, and vertical, radial, or hair-like changes between the bony plates.

bubble_chart Diagnosis

There is a positive family history, and the onset often occurs in infancy.

bubble_chart Treatment Measures

There is currently no specific treatment for this disease. Mild cases do not require treatment. Severe cases can be managed with the following methods.

1. Blood transfusion Repeated large-volume blood transfusions to maintain hemoglobin levels around 120–150 g/L (referred to as hypertransfusion), followed by transfusions every 4 weeks, 20 ml/kg each time. This can improve growth and development and prevent skeletal changes. However, measures must be taken to prevent hemosiderosis, such as using deferoxamine at 35–40 mg/kg subcutaneously once daily for 6 consecutive days per week, long-term. Alternatively, 500–1000 mg can be added to each transfusion. Vitamin C can be taken concurrently.
2. Splenectomy This can improve anemia and reduce the frequency of transfusions. Indications include: (1) increasing transfusion requirements; (2) symptoms caused by massive splenomegaly; (3) concurrent hypersplenism.
3. Partial splenic embolization (PSE) Some institutions in China have achieved good results using PSE to treat severe thalassemia, with outcomes including spleen size reduction, improved anemia, and enhanced resistance to infections. The main procedure involves injecting sterile gelatin sponge via the femoral artery to embolize 50–80% of the spleen.
4. Gene activation therapy This involves using chemical agents to reactivate the γ-globin gene, thereby increasing HbF synthesis and alleviating symptoms of β-thalassemia. Some protocols use hydroxyurea at 25–50 mg/(kg·d) for 5–7 days per course, while others employ 5-azacytidine at 2 mg/(kg·d) intravenously for 7 days.
5. Bone marrow transplantation This may offer a potential cure for severe thalassemia.
6. Other medications Vitamin E and folic acid may be supplemented as appropriate. Iron supplements are generally contraindicated.

AD

TCM can effectively treat dry eye syndrome, floaters, retinopathy, and various chronic eye diseases

bubble_chart Differentiation

It should be differentiated from iron deficiency anemia and hereditary spherocytosis.