Disorder "Sickle Cell Anemia"
Found 352 records
Disorder information
Disorder name:
Sickle Cell Anemia 
Disoder ID:
OMIM entry:
Synonyms:
Hb SC disease,Hb-S/Hb-C disease,Hb-SS disease without crisis,Hemoglobin S disease without crisis,Sickle-cell/Hb-C disease without crisis,drepanocytosis,hemoglobin SC disease 
Definition:
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. 
Modifier statisitcs
Record:
352 
Gene:
110 
Variant:
291 
Reference:
43 
Effect type:
Expressivity(325) ,Pleiotropy(22) ,Penetrance(4) ,Dominance(1)  
Modifier effect:
Risk factor(104) ,Altered HbF levels(76) ,Altered response to hydroxyurea(32) ,Altered HbF production(25) ,Altered severity(17) ,Bacteremia-prone phenotype(13) ,Altered white blood cell counts(11) ,Altered baseline HbF level(10) ,Altered hemoglobin level(9) ,Altered fetal hemoglobin (HbF) levels(8) ,Altered levels of fetalhemoglobin and pain crisis(8) ,Altered glomerular filtration rate(6) ,Altered stroke susceptibility(6) ,Altered anemia, leukocytosis, and thrombocytosis(4) ,Altered incidence(4) ,Altered level of Fetal hemoglobin(3) ,Altered levels of HbF(3) ,Altered susceptibility(2) ,Altered serum levels(2) ,Presence of albuminuria(2) ,Alter the occurrence of stroke(1) ,Altered HbF levele(1) ,Altered bilirubin level(1) ,Altered immune response(1) ,Altered level of fetal hemoglobin(1) ,Altered rate of hospitalization(1) ,Heterozygote susceptibility(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
HBS1L HBS1L:n.135418633_135418635del Expressivity  Altered anemia, leukocytosis, and thrombocytosis  P=2.3×10(-4)  Alleles at HbF modifier loci significantly reduce anemia, leukocytosis, and thrombocytosis in Tanzanian patients with SCD.more more
HBS1L:n.135418916A>G Expressivity  Altered severity  P=0.0002  HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more more
HBS1L:n.135418916A>G Expressivity  Altered levels of fetalhemoglobin and pain crisis  P=0.0002  Increased levels of fetal hemoglobin, decreased rate of pain crisismore more
HBS1L:n.135419631A>G Expressivity  Altered severity  P=0.0009  HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more more
HBS1L:n.135419631A>G Expressivity  Altered levels of fetalhemoglobin and pain crisis  P=0.0009  Increased levels of fetal hemoglobin, decreased rate of pain crisismore more
HBS1L:n.135427817G>A Expressivity  Altered HbF levels  P=1.23×10(-4)  Common variants for BCL11A and HBS1L-MYB were strongly associated with HbF levels.more more
HBS1L:c.-380A>C Expressivity  Altered fetal hemoglobin (HbF) levels  P =0.0024  Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.more more
HBS1L:n.135427817G>A Expressivity  Altered fetal hemoglobin (HbF) levels  P=1.9×10(-13)  Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.more more
HBS1L:ss244317976 Expressivity  Altered fetal hemoglobin (HbF) levels  P=1.6×10(-4)  Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.more more
HBG2 HBG2:c.-211C>T Expressivity  Altered HbF levels  Bayesian approach  Different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.more more
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