Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19

The COVID-19 pandemic is causing many deaths around the world, putting a strain on health
services. Patients with pre-existing chronic diseases are most affected by SARS-COV2
infection. Italy is one of the countries most involved. Thalassaemia, drepanocytosis,
other hemoglobinopathies and inherited anemias are widespread in italy and the
mediterranean area. Thalassaemia syndromes are characterized by different clinical forms
with mutations in globin genes that cause the reduction or complete absence of synthesis
of the globin chain. Transfusion therapy remains the basis of thalassaemia management.
Based on the extent of the severity of anemia and clinical presentation, thalassaemia was
classified as transfusion-dependent (TDT) and non-transfusion-dependent (NTDT).
Transfusion inevitably contributes to iron overload, which is associated with secondary
morbidity, including organ damage, especially heart, liver, bone tissue, and endocrine
glands. In ntdt, comorbility is mainly related to chronic anemia and increased
gastrointestinal iron adsorption.

Other inherited anaemias include a large group of pathologies such as: hyporegenerative
anaemias, such as congenital diseritropoietic anaemia and diamond-blackfan anemia;
anaemies from deficiency of red blood cell membrane proteins due to altered membrane
structure, such as hereditary spherocytosis and hereditary ellipsocytosis, and impaired
membrane transport function, such as hereditary stomatocytosis; anaemies due to enzymatic
deficiency, the most frequent of which are pyruvate deficiency kinase and glucose-6
phosphate dehydrogenase; sideroblastic anaemias and all other hereditary microcytic
anaemies such as irida. All these anemias are characterized by high phenotypic
heterogeneity but in most cases chronic hemolytic anemia, iron overload and addiction
transfusion are found (as a percentage of a variable of cases). Transfusion therapy
remains the basis of the management of these anaemias along with splenectomy (not
practicable in all these classes of anemia). As with thalassaemia syndromes, in such
anaemias, we find secondary morbidity, such as heart, liver, and endocrine damage
resulting from both chronic anemia and iron overload.

Infectious complications are a common cause of mortality and one of the main causes of
morbidity in all these pathologies. The greater quantitative and functional quantities,
the involve t and b lymphocytes, production of immunoglobulins, neutrophils and
macrophages, chemotaxis and phagocytosis, as well as the complement system. Excess iron
can alter the immune balance in favour of the growth of infectious organisms. Other
factors include multiple transfusions, associated with constant allo-antigenic
stimulation. A large percentage of adult patients are splenectomized and risk
complications related to splenectomy such as capsuled bacterial infections and immune
system changes; low levels of zinc, another immune regulator; iron chelation therapy,
which predisposes to serious yersinia-like infections. The circulation of abnormal
erythrocytes is the cause of another permanent immune stimulus. In addition, particularly
in elderly patients, the coexistence of adrenal hypofunction makes the response to sepsis
less effective.

However, we have no information on the vulnerability of patients with thalassaemia,
drepanocytosis, other hemoglobinopathies and hereditary anemias to SARS-COV2 infection.
In order to obtain more information useful to increase our knowledge, a retrospective
survey has been planned.

The main objective of this project is the evaluation of patients with thalassaemia,
drepanocytosis, other hereditary hemoglobinopathies and anaemias affected by SARS-COV2
to:

1. obtain clinical and epidemiological data that may dare information on a possible
increased vulnerability of these patients to SARS-COV2;

2. share therapeutic approaches considering the lack of information about treatment.

This is an italian study of observational, pharmacological, non-interventional,
retrospective, prospective and multicenter, non-profit cohort. Patients diagnosed with
thalassaemia, drepanocytosis, other hemoglobinopathies and hereditary anaemia positive to
the SARS-COV2 virus will be enlisted. Patient data from reference centers will be
introduced into the card via a web service.

The scientific committee of the project has discussed and approved a set of data that
will be collected by local centers and that will feed the data collection database.

The study will be launched in every Italian center that requires participation. The
Italian Society of Thalassaemia and Hemoglobinopathies (SITE) in its role as a scientific
reporting company for pathology and the Foranemia Foundation, a non-profit organization,
makes available to the center of microcitemie, coordinator of the study, a special web
space for online data collection assuming the costs.