Disorder "Thalassemia"
Found 6 records
Disorder information
Disorder name:
Thalassemia
Disoder ID:
Synonyms:
Sickle-cell thalassemia with crisis,Sickle-cell thalassemia without crisis,thalassemia Hb-S disease with crisis,thalassemia Hb-S disease without crisis
Definition:
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Modifier statisitcs
Record:
6
Gene:
4
Variant:
6
Reference:
2
Effect type:
Expressivity(6)
Modifier effect:
Risk factor(4)
,Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| NONE | NONE:n.135419018T>C | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects.more | more |
| LOC105378010 | LOC105378010:n.135426573A>G | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects.more | more |
| HBS1L | HBS1L:c.-162C>T | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects.more | more |
| HBS1L:Gγ-XmnI | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects.more | more | |
| BCL11A | BCL11A:c.386-24002G>T | Expressivity | Altered severity | Gene activity study | rs11886868, and rs766432 have a modifying effect on HbF and clinical score in HbE/β-thal patients in Indonesiamore | more |
| BCL11A:c.386-24278G>A | Expressivity | Altered severity | Gene activity study | rs11886868, and rs766432 have a modifying effect on HbF and clinical score in HbE/β-thal patients in Indonesiamore | more |
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