Assertion and evidence details
Submission AccessionSubmitterReview Status [Assertion method]Clinical Significance [Last evaluated]OriginMethodCitationsSCV000584092HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha
criteria provided, single submitter
- HA_assertions_20150911 Pathogenic [Feb 10, 2015] unknownresearch
HA_assertions_20150911.pdf,
Citation Link,
SCV001193841Myriad Genetics, Inc.
criteria provided, single submitter
- Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria [2019] Pathogenic [Nov 18, 2019] unknownclinical testing
PubMed [6] []
Citation Link,
SCV001244657The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic [Nov 25, 2019] germlinecuration
PubMed [4] []
Citation Link,
SCV001530442Baylor Genetics
criteria provided, single submitter
- ACMG Guidelines, 2015 Pathogenic [Jan 31, 2018] maternalclinical testing
PubMed [1] [See all records that cite this PMID]
SCV002091596Natera, Inc.
no assertion criteria provided
Pathogenic [Aug 23, 2018] germlineclinical testing
Summary from all submissions
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethodnot providedmaternalyesnot providednot providednot providednot providednot providedclinical testingnot providedunknownunknown1not providednot provided1not providedclinical testing, researchnot providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation
Citations
Details of each submission
EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations1not providednot providednot providednot providedclinical testing PubMed [6]
Description
NM_000518.4[HBB]:c.79G>A[E27K, aka Hb E] is classified as pathogenic and is associated with hemoglobin E disease. Sources cited for classification include the following: PMID: 17278112, 7177196, 7395858, 22028795, 6166632, and 24368026. Classification of NM_000518.4[HBB]:c.79G>A[E27K, aka Hb E] is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
SampleMethodObservationOriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
Thalassemia là một bệnh di truyền trên nhiễm sắc thể lặn. Bệnh có thể sẽ được truyền từ bố mẹ sang con theo cơ chế di truyền khi cả bố và mẹ mang gen bệnh. Hiện nay các xét nghiệm máu được thực hiện rất đơn giản và mang lại giá trị cao trong chẩn đoán bệnh.
1. Phân loại bệnh Thalassemia
Ở người bình thường globin gồm 4 chuỗi peptid: α2β2 = HST A1 [96-99%], α2δ2 = HST A2[