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Genome sequencing of thousands of patients with rare blood disorders

Approximately 3M people have a rare bleeding disorder or disease of platelets, which are the cell fragments that help blood clot. The genetic causes of dozens of such disorders are known (e. g.

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Genetic Predisposition to Blood Cancer (Rare diseases)

The objectives of the group are:

Share and extend clinical knowledge on the diagnosis and treatment of hematologic malignancies with germline predisposition.

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Expert opinions for specific non-malignant hematologic diseases

Red Cells and Iron
Hemoglobinopathies: Sickle Cell Disease and Thalassemia

Sickle Cell Disease Association of America (SCDSS)
Sickle Cell Disease and COVID-19: An Outline to Decrease Burden and Minimize Morbidity 
Italian Society of Thalassemia and Hemoglobinopathies

Thalassemia and Hemoglobin disorders Italian Society
Thalassemia International Federation (TIF)
The COVID-19…

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Infections in Hematology

A recent publication in Clinical Infectious Diseases "Global differences in the management of Staphylococcus aureus bacteremia" revealed substantial variation in treatment practices across the world.

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The root of evil: pre-leukemic clones that survive chemotherapy are linked to a higher risk of leukemia recurrence

Acute myeloid leukemia (AML) is an aggressive form of blood cancer. Treatment with intensive chemotherapy often leads to a period of freedom from overt disease called a remission. However, recurrence of the disease is common.

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A new form of inherited thrombocytopenia (ETV6-related thrombocytopenia, ETV6-RT): NEVER JUDGE A BOOK BY ITS COVER!

A new form of inherited thrombocytopenia (ETV6-related thrombocytopenia, ETV6-RT): NEVER JUDGE A BOOK BY ITS COVER!

We recently discovered a new form of an inherited deficiency of platelets (inherited thrombocytopenia-IT), which is caused by mutations in the ETV6-gene.

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