20 Common Inherited Conditions in Chinese Population
Gene(s) in scope
HBA1, HBA2
Symptom
Anemia, Regular blood transfusion required, Severe patients may die in teenage
α- thalassemia
Carrier rate: 1/12
Gene(s) in scope
HBB
Symptom
Anemia, Regular blood transfusion required, Severe patients may die in teenage
β- thalassemia
Carrier rate: 1/40
Gene(s) in scope
TYR, SLC45A2
Symptom
Melanin deficient, May cause basel cell carcinoma, Visual disorders, Pupil deformation, Abnormal immune function
Albinism
Carrier rate: 1/70
Gene(s) in scope
ASS1
Symptom
Severe neurological and autonomic nervous problems, Epilepsy, Brain diseases, May be lethal
Citrullinemia
Carrier rate: 1/42
Gene(s) in scope
CYP21A, STAR, CYP11B1, HSD3B2
Symptom
Diarrhea causes dehydration, Lethal shock, Unclear gender, Nausea
Congenital Adrenal Hyperplasia
Carrier rate: 1/60
Gene(s) in scope
DMD
Symptom
Muscular wasting, Pneumonia, Heart failure, Have to rely on wheelchair since teenage
Duchenne Muscular Dystrophy
Carrier rate: 1/4900
Gene(s) in scope
FMR1
Symptom
Epilepsy, Heart tissue dystrophy, Poor mental development, Autism
Fragile X Syndrome
Carrier rate: M: 1/1000 F: 1/350
Gene(s) in scope
G6PD
Symptom
Jaundice, Acute hemolytic anemia, May cause acute renal failure
G6PD Deficiency
Carrier rate: 1/12
Gene(s) in scope
GALT, GALK1
Symptom
Developmental and mental disorders, Cataracts, Cirrhosis, Severe patients may die due to bloodstream infections
Galactosemia
Carrier rate: 1/180
Gene(s) in scope
GBA
Symptom
Spleen and liver enlargement, Primary central nervous system diseases
Gaucher Disease
Carrier rate: 1/120
Gene(s) in scope
F8
Symptom
Excessive bleeding, May cause disability and joint disorders
Hemophilia A
Carrier rate: 1/13000
Gene(s) in scope
F9
Symptom
Excessive bleeding, May cause disability and joint disorders
Hemophilia B
Carrier rate: 1/56000
Gene(s) in scope
GJB2, SLC26A4, BSND, CDH23, MYO15A, MYO7A, PCDH15, PRPS1, USH1C
Symptom
Hearing loss, Deafness
Hereditary Hearing Loss
Carrier rate: 1/24
Gene(s) in scope
IDUA
Symptom
Hepatosplenomegaly caused by hernia, Heart valve dysfunction, Hearing impairment
Mucopolysaccharidosis I
Carrier rate: 1/340
Gene(s) in scope
IDS
Symptom
Respiratory problems may cause pneumonia, Developmental disorder, Articular contracture, Heart disease
Mucopolysaccharidosis II
Carrier rate: 1/230
Gene(s) in scope
PAH
Symptom
Epilepsy, Abnormal behavior, Developmental disorder, Easy to be infected
Phenylketonuria
Carrier rate: 1/50
Gene(s) in scope
PKHD1
Symptom
Low back pain, Hematuria, Urinary tract infections, Proteinuria, Chronic renal failure
Polycystic Kidneys Disease
Carrier rate: 1/70
Gene(s) in scope
GAA
Symptom
Muscle weakness, Breathing problems, Heart weakness, Heart respiratory failure
Pompe Disease
Carrier rate: 1/100
Gene(s) in scope
SMN1
Symptom
Muscular atrophy, Respiratory failure, Loss of mobility
Spinal Muscular Atrophy
Carrier rate: 1/50
Gene(s) in scope
ATP7B
Symptom
Abdominal pain, Hepatomegaly, Hepatomegaly or cirrhosis, Limb stiffness
Wilson Disease
Carrier rate: 1/90