| disease | Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency |
| alias | G6PD |
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
(1) Medical history and symptoms
(1) History inquiry: Note: (1) Whether there is a family history. (2) The predisposing factors of anemia: whether it is related to the consumption of fava beans, oxidant drugs such as primaquine, or infection. (3) Whether there is a history of jaundice and hemoglobinuria.
(2) Clinical symptoms: dizziness, headache, palpitation, dyspnea, abdominal pain, and back pain. Severe hemoglobinuria may lead to renal failure.
(2) Physical examination findings
Anemic appearance, jaundice of the skin and sclera, grade I hepatosplenomegaly or normal.
(3) Auxiliary examinations
1. Blood test: Decreased hemoglobin, presenting as normocytic normochromic anemia; increased reticulocytes; presence of bite cells and blister cells, with observable nucleated red blood cells; Heinz bodies may be seen in red blood cells. White blood cell and platelet counts are often elevated.
2. Bone marrow examination: Hyperactive or markedly hyperactive, with proliferation of both erythroid and granulocytic series.
3. Elevated indirect bilirubin in blood, decreased or absent serum haptoglobin, increased plasma free hemoglobin. Positive urine 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: the filter paper appears light purple-blue or remains red.
5. Perform G6PD activity quantitative measurement if conditions permit.
bubble_chart Treatment Measures
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, efficacy uncertain.
Dialysis treatment should be performed when renal failure occurs.It should be differentiated from other hemolytic anemias such as autoimmune hemolytic anemia, paroxysmal nocturnal hemoglobinuria, and paroxysmal cold hemoglobinuria.
