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Alpha Thalassemia Silent Carrier

MedGen UID:: 453213
•Concept ID:: C2062366
•: Disease or Syndrome

Definition

A condition in which a person has reduced protein production from one of the four alpha-globin alleles. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAlpha Thalassemia Silent Carrier

Hematopoietic and Lymphatic System Disorder
- Hematologic disorder
  - Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder
    - Congenital hematological disorder
      - Hemoglobinopathy
        Hemoglobin Trait
        Alpha Thalassemia Silent Carrier

Professional guidelines

PubMed

Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen.

Fogel BN, Nguyen HLT, Smink G, Sekhar DL
J Pediatr 2018 Apr;195:283-287. Epub 2017 Dec 20 doi: 10.1016/j.jpeds.2017.11.048. PMID: 29273175

Curated

ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023

ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023

ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023

ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease

Recent clinical studies

Diagnosis

Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen.

Fogel BN, Nguyen HLT, Smink G, Sekhar DL
J Pediatr 2018 Apr;195:283-287. Epub 2017 Dec 20 doi: 10.1016/j.jpeds.2017.11.048. PMID: 29273175

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Practice guidelines

PubMed
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Bookshelf
See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Curated

ACMG Algorithm, 2023
ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023
ACMG Algorithm, 2023
ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023
ACMG ACT, 2023
ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023
ACMG ACT, 2023
ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease

Consumer resources

MedlinePlus

Reviews

Related information

PubMed
Related literature resources in PubMed

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