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 |
|---|---|---|---|---|---|---|
| HBG2 | HBG2:c.-211C>T | Expressivity | Risk factor | Common in the european population (p=0.00) | A high prevalence of rs7482144-'A' reflects the West-African origin of the sickle cell mutation, while high frequencies of rs4895441-'G' and rs11886868-'C' point to a significant influence of an Amerindian ethnic background in the Colombian sickle cell disease population.more | more |
| HBG2:c.-211C>T | Expressivity | Risk factor | Frequently observed mutations | The 4 markers (rs6545816, rs1427407, rs66650371, and rs7482144) each independently contributing HbF-boosting allelesmore | more | |
| HBG2:c.-211C>T | Expressivity | Altered severity | Haplotypes (rs11036351,rs4320977,rs16912210,rs2855039,rs7482144) are associated with fetal haemoglobin | These SNP-defined βS-haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA.more | more | |
| HBG2:c.-211C>T | Expressivity | Altered anemia, leukocytosis, and thrombocytosis | P=0.06 | Alleles at HbF modifier loci significantly reduce anemia, leukocytosis, and thrombocytosis in Tanzanian patients with SCD.more | more | |
| HBG2:c.-211C>T | Expressivity | Altered severity | P=4×10(-7) | HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more | more | |
| HBG2:c.-211C>T | Expressivity | Altered levels of HbF | P=0.011 | High levels of HbF were primarily influenced by alleles of BCL11A (rs4671393) and HMIP (rs4895441) loci, and to a lesser extent by rs748214 Gγ-globin (HBG2) gene promoter.more | more | |
| HBG2:c.-211C>T | Expressivity | Altered level of Fetal hemoglobin | When the cumulative numbers of minor alleles in the three contributing snps were assessed, hbf% and hemoglobin concentration increased with increasing number of minor alleles (p<0.0005 and 0.001, respectively), while serum lactic dehydrogenase, reticulocytes, leukocytes, transfusion, and pain frequencies decreased (p=0.003, 0.004, <0.0005, <0.0005, and 0.017, respectively). | SNPs in all three major HbF QTLs contribute significantly to HbF and clinical variability in Iraqi Kurds with SCDmore | more | |
| HBG1 | HBG1:n.-4895G>A | Expressivity | Altered severity | Haplotypes (rs11036351,rs4320977,rs16912210,rs2855039,rs7482144) are associated with fetal haemoglobin | These SNP-defined βS-haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA.more | more |
| HBE1 | HBE1:c.-4984C>G | 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 |
| HBE1:c.-508G>C | 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 |