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 |
|---|---|---|---|---|---|---|
| BCL11A | BCL11A:c.386-22075A>C | 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 |
| BCL11A:c.386-23106G>A | Expressivity | Altered HbF production | P=3.28×10(-7) | Possible molecular determinants of HbF productionmore | more | |
| BCL11A:c.386-24002G>T | Expressivity | Altered HbF production | P=2.41×10(-7) | Possible molecular determinants of HbF productionmore | more | |
| BCL11A:c.386-24278G>A | Expressivity | Risk factor | Common (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 | |
| BCL11A:c.386-24278G>A | Expressivity | Altered level of fetal hemoglobin | P<10(-35) | BCL11A variants, by modulating HbF levels, act as an important ameliorating factor of the beta-thalassemia phenotype, and it is likely they could help ameliorate other hemoglobin disorders.more | more | |
| BCL11A:c.386-24278G>A | Expressivity | Altered severity | P=1×10(-7) | HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more | more | |
| BCL11A:c.386-24278G>A | Expressivity | Altered levels of fetalhemoglobin and pain crisis | P=1×10(-7) | Increased levels of fetal hemoglobin, decreased rate of pain crisismore | more | |
| BCL11A:c.386-24278G>A | Expressivity | Altered anemia, leukocytosis, and thrombocytosis | P=2×10(-3) | Alleles at HbF modifier loci significantly reduce anemia, leukocytosis, and thrombocytosis in Tanzanian patients with SCD.more | more | |
| BCL11A:c.386-24278G>A | Expressivity | Altered HbF production | P=6.35×10(-8) | Possible molecular determinants of HbF productionmore | more | |
| BCL11A:c.386-24278G>A | Penetrance | Altered incidence | P=0.059 | This report highlights the protective effect of the BCL11A polymorphism in this population.more | more |