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About 253 results

ALLMedicine™ Alpha Thalassemia Center

Research & Reviews  90 results

Screening for Alpha Thalassemia in Healthy Volunteers
https://clinicaltrials.gov/ct2/show/NCT02692872

Jan 27th, 2023 - Many of the complications of sickle cell disease, such as stroke, kidney damage, skin ulceration,pulmonary hypertension, and cardiac hypertrophy are prevented, delayed or reduced by inheritance of one of more deletions of the alpha globin genes. O...

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Ac...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791005
Annals of Laboratory Medicine; Kim MJ, Kim SY et. al.

Dec 23rd, 2022 - New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical...

ATRX modulates the escape from a telomere crisis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678338
PLoS Genetics; Geiller HEB, Harvey A et. al.

Nov 10th, 2022 - Telomerase activity is the principal telomere maintenance mechanism in human cancers, however 15% of cancers utilise a recombination-based mechanism referred to as alternative lengthening of telomeres (ALT) that leads to long and heterogenous telo...

In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
https://clinicaltrials.gov/ct2/show/NCT02986698

Oct 31st, 2022 - Alpha thalassemia major (ATM) is almost universally fatal in utero and represents an orphan disease with an unmet need for effective therapies. The only current treatment to allow the fetus to be born is to perform in utero transfusions (IUT) of r...

The impact of in utero transfusions on perinatal outcomes in patients with alpha thalas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9860434
Blood Advances; Schwab ME, Lianoglou BR et. al.

Oct 29th, 2022 - Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on survival to di...

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Clinicaltrials.gov  7 results

Screening for Alpha Thalassemia in Healthy Volunteers
https://clinicaltrials.gov/ct2/show/NCT02692872

Jan 27th, 2023 - Many of the complications of sickle cell disease, such as stroke, kidney damage, skin ulceration,pulmonary hypertension, and cardiac hypertrophy are prevented, delayed or reduced by inheritance of one of more deletions of the alpha globin genes. O...

In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
https://clinicaltrials.gov/ct2/show/NCT02986698

Oct 31st, 2022 - Alpha thalassemia major (ATM) is almost universally fatal in utero and represents an orphan disease with an unmet need for effective therapies. The only current treatment to allow the fetus to be born is to perform in utero transfusions (IUT) of r...

International Registry of Patients With Alpha Thalassemia
https://clinicaltrials.gov/ct2/show/NCT04872179

Oct 12th, 2022 - The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with alpha thalassemia major and other alpha thalassemia mutations. Data collected will be used to: Identify patient outcomes of therapies....

Heart Arteries and Sickle Cell Disease / Coeur Artères DREpanocytose
https://clinicaltrials.gov/ct2/show/NCT03114137

May 25th, 2018 - Sickle cell disease (SCD), one of the lost common genetic diseases worldwide, is caused by a mutation in the β globin gene. Most patients with this disease are homozygous for the βS allele (SS), whereas others have inherited a βS allele with anoth...

Genetics of Alpha Thalassemia in Israeli Ethnic Groups
https://clinicaltrials.gov/ct2/show/NCT00159029

Aug 10th, 2017 - Alpha thalassemia causes mild anemia and is found in many ethnic groups. Usually it is found in regions where malaria is endemic. We have found that alpha thalassemia is common in Ashkenazim, whose countries of origin are in temperate climates. We...

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News  1 results

What I Have Learned Since Fellowship: Tips for Professional Success and Happiness
https://www.onclive.com/view/what-i-have-learned-since-fellowship-tips-for-professional-success-and-happiness

Dec 5th, 2020 - I have just finished my 15th year on faculty and my 13th year directing the hematology/oncology fellowship program at the Medical University of South Carolina. Although none of what I have learned along the way is truly novel, I hope that a few ob...

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Patient Education  3 results see all →