Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary erythrocyte enzyme disorder. Over 400 G6PD variants have been identified, but only a few are commonly pathogenic.

bubble_chart Diagnosis

(I) Medical History and Symptoms

(1) History Inquiry: Note: ① Any family history. ② Triggers for anemia: Whether related to consumption of fava beans, oxidant drugs like primaquine, or infections. ③ History of jaundice and hemoglobinuria.

(2) Clinical Symptoms: Dizziness, headache, palpitation, dyspnea, abdominal pain, lumbar and back pain. Severe hemoglobinuria may lead to renal failure.

(II) Physical Examination Findings

Anemic appearance, jaundice of the skin and sclera, grade I hepatosplenomegaly or normal.

(III) Auxiliary Examinations

1. Blood Test: Decreased hemoglobin, normocytic normochromic anemia; increased reticulocytes; presence of bite cells and blister cells, with occasional nucleated red blood cells; Heinz bodies visible in red blood cells. Leukocyte and platelet counts are often elevated.

2. Bone Marrow Examination: Hypercellular or markedly hypercellular, with hyperplasia of both erythroid and granulocytic series.

3. Increased indirect bilirubin in blood, decreased or absent serum haptoglobin, elevated plasma free hemoglobin. Positive urinary hemosiderin.

4. Methemoglobin Reduction Test: Reduction rate <75%；螢光斑點試驗：出現螢光時間> 10min; Nitroblue tetrazolium paper test: Filter paper appears light purple-blue or remains red.

5. G6PD activity quantitative assay if available.

(IV) Differential Diagnosis

Should be differentiated from other hemolytic anemias such as autoimmune hemolytic anemia, paroxysmal nocturnal hemoglobinuria, and paroxysmal cold hemoglobinuria (refer to relevant sections).

Remove the triggers, Jinfu broad beans and their products, and discontinue oxidizing drugs.

Blood transfusion: hemoglobin <60g/L時應適量輸血。

Glucocorticoids: 40-60mg/d, oral administration, with uncertain efficacy.

Dialysis should be performed in case of renal failure.