Glucose-6-phosphate dehydrogenase deficiency Disease

About Gene:

Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that affects red blood cells, which carry oxygen from the lungs to tissues throughout the body.

Number of Patients: 1

Disease Causing Genes:

G6PD H6PD TP53 ITGB2 CD274 NFE2L2 MTOR TERT UGT1A1 HBB CYP2D6 HSD17B3 CD40LG GLA GYS1 CRYAB

Sign and Symptoms:

  1. Anemia. People can have a severe form of anemia called acute hemolytic anemia. Jaundice. When your skin turns yellow. Dark-colored pee. Fatigue. Being more pale than usual. Having a rapid heart rate. Feeling short of breath. Having an enlarged spleen.

Diagnosis:

(1) Physical examination (2) Hemoglobin test (3) Hematocrit test (4) Reticulocyte count (5) Chest X-ray (6) Blood smear test (7) Bone marrow examination (8) Cold agglutinins test (9) Coombs test (10) G6PD assay

Preventions:

Treatment: