Transfusion Treatment in Patients With SCD
Transfusion Treatment in Patients With SCD
The "National Transfusion Treatment Survey in patients with sickle cell disease (SCD)" is a
 prospective longitudinal systemic study that was created in order to evaluate the therapeutic
 approach, mainly transfusional, in patients affected by SCD throughout Italy and to improve
 the quality of care and implement research.

 The survey will evaluate all patients affected by different forms of sickle cell disease (HbS
 homozygosis, Thalassoso-drepanocytosis, HbS / HbC compound heterozygosis, other possible
 genetic compounds).

 Patients will be selected according with a SCD diagnosis confirmed by standardized
 biochemical criteria or by DNA analysis. Patients will be excluded from the study who do not
 meet the these requirements, who are unable to understand the protocol or able to give
 informed consent in the absence of any legal representative.

 All data will be collected through a standard web-based application, which will be completed
 by the responsable investigator or by sub-investigators selected by each center, after
 registration on the site providing personal data and indicating the affiliation structure.
 All data will be subsequently encrypted by the Central Server. The operator will subsequently
 be able to access the patient's clinical data to perform the updates, in order to follow the
 patient's clinical evolution over time. The study will not involve any additional tests
 compared to the routine of patient control.
Sickle Cell Disease (SCD) includes a group of rare inherited monogenic diseases caused by
 mutations of genes involved in hemoglobin biosynthesis and is characterized by the presence
 of a hemoglobin variant (HbS); transmission occurs according to mendelian recessive mode.

 The term "Sickle Cell Disease" includes several genotypes expressing a similar phenotype,
 characterized by acute events sustained from the pathophysiological point of view by
 vasoocclusive and / or acute hemolytic crisis and by chronic hemolytic anemia, mechanisms
 both conditioning in progressive organ damage time. The most common genotype (70% present in
 the African continent) consists of homozygosity for both alleles S (Drepanocytosis or Sickle
 Cell Anemia, SCA - HbSS), followed by compound heterozygosis of a β-thalassemic mutation and
 an allele S ( Thalasso-sickle cell disease or HbS / βthal), then from βs/ βc (HbS / HbC
 hemoglobinopathy).

 The characteristic clinical manifestations consist of recurrent vaso-occlusive ischemic
 events and consequent micro infarcts, up to the development of acute and chronic multi-organ
 insufficiency; the responsible pathophysiological mechanism resides in the polymerization of
 hemoglobin S.

 The main acute, life-threatening events are acute cerebrovascular events (stroke, 11% of
 patients with SCA within 20 years), acute respiratory failure (Acute Chest Syndrome, ACS)
 associated with pulmonary hypertension and severe painful osteo-articular and splanchnic
 crises.

 The identification and detection of parameters indicating the progressive deterioration of
 neurological and cardio-pulmonary function could be decisive in the prevention of both acute
 events and the progressive worsening of organ damage.

 The physio-pathogenetic mechanisms of ischemic events in patients with SCD are numerous.
 Hypoxia conditions the formation of insoluble desoxy-Hb with consequent polymerization of HBS
 up to the formation of Hb (tactoids) gel. This generates: alteration and loss of elasticity
 of the erythrocyte membrane; formation of sickle and dence cells; alteration of the vascular
 endothelium. These events are the substratum of the pivotal mechanisms underlying the
 sickling crisis: hemolysis and vaso-occulsion.

 Sickle cell disease is the most common hemoglobinopathy in Africa, the Middle East and the
 countries of Southeast Asia; the prevalence of SCD in Italy has significantly increased in
 recent years in relation to migratory flows from countries with high incidence of this
 disease.

 In relation to Caritas data on immigration (1994 and 2000), an influx of about 10 new
 patients / year is expected. The ISTAT register, in 2010 in Lombardy the foreign population
 reached the incidence of 10.7% equal to 1064447, destined to increase over time; in
 particular Lombardy is the Italian region with the highest rate of immigrants (23.3%),
 followed by Lazio, Emilia Romagna and Veneto.

 In 2006 the World Health Organization (WHO) called on governments to "formulate, implement,
 reinforce in a systematic way, fair and effective the national programs, global and
 integrated, for the prevention and treatment of sickle-cell disease in order to reduce
 mortality and morbidity" .

 On 22/08/2008 the United Nations General Assembly established the World Sickle Disease Day.

 In 2010 the WHO and the United Nations (www.afro.who.int) recognized the disease as a "global
 health problem".Based on the WHO recommendations and on the evidence of the increase in the
 number of patients seen in recent decades, also in relation to multiethnic migratory
 phenomena, the Italian Society of Thalassemia and Hemoglobinopathies (SITE), the Society
 Italian Transfusion Medicine and Immunohaematology (SIMTI) and the Italian Association of
 Hematology and Pediatric Oncology (AIEOP) have considered important to promote and propose a
 "Survey" that could allow to acquire information about the treatment, with particular regard
 to the transfusion therapy, offered to patients with sickle cell disease in the different
 Italian realities and at the same time perform a "mapping" of the Transfusion Structures that
 apply erythrocyte exchange programs. The resulting information can also constitute a valid
 and concrete help to the orientation of the patients themselves.

 This is an observational study aimed to better understand the management criticalities of
 these patients (first of all difficulty in obtaining blood for different ethnic groups) and
 consisting in the acquisition of clinical and epidemiological data (age, ethnicity) on a
 national basis, referred to pediatric and adult patients. Patients included in the study will
 be able to refer to the total number of patients belonging to the Center, whether following a
 specific therapeutic program, or requiring no treatment and only in follow-up, in order to
 detect the overall number of patients.

 The "Survey" is present online and accessible through the SITE website (www.SITE-italia.org)
 (initially, also via the sites of SIMTI and AIEOP), where it will be possible to find
 instructions for completing the collection form data, if the indications contained in the
 data sheet are not clear.
Inclusion Criteria:

 -  patients suffering of sickle cell disease, with diagnosis confirmed by standardized
 biochemical criteria or by matching mutations on globin genes by DNA analysis;

 -  all patients who consent to the study by signing the informed consent given by the
 U.O.C.

 Exclusion Criteria:

 -  patients without a diagnosis confirmed according to standardized biochemical criteria
 or via mutation on globin genes by DNA analysis.

 -  all patients unable to understand the study protocol and to give informed consent and
 who have no legal representative.