SICKLE CELL DISEASE: A NEW DISEASE IN MADRID
(Abstract release date: 05/18/17)
EHA Library. J. Bardón-Cancho E. 05/18/17; 182856; PB2143
Eduardo J. Bardón-Cancho
Contributions
Contributions
Abstract
Abstract: PB2143
Type: Publication Only
Background
Sickle cell disease (SCD) was scarcely diagnosed 2 decades ago in Spain, and the Community of Madrid is a paradigm of the adjustments that had to be implemented to attend an increase of cases due to immigration.
Aims
The aim of our study was to find out the prevalence of SCD in the referral center for sickle newborn screening in the Community of Madrid, in addition to the demographic characteristics of these patients. The secondary objectives were to obtain the frequency of specific treatments or prophylaxis accomplished by these patients, and the reasons for loss to follow-up.
Methods
The study is observational, unicentric, descriptive and retrospective, carried out in February 2017 in a tertiary hospital in the Community of Madrid, Spain. All patients diagnosed with SCD and who had attended at least once to the hematology clinic for this reason were included. Demographic characteristics (date of birth, gender, country of birth) and clinical characteristics (genotype, therapy and update in follow up, like alive, deceased or lost patient) were collected. Written informed consent was signed by patients or legal guardians in accordance with the Declaration of Helsinki. The study was approved by the hospital Ethical Committee. Statistical analyses were performed using SPSS version 18.0. Quantitative variables were reported as median or mean value and range, while categorical variables were expressed as absolute value and percentage.
Results
The total number of SCD patients included was 209. Ratio boy/girl is 1.3. Most of patients were born in Spain (85%), although 8% and 5.26 % were born in Africa or America respectively. Seventy three percent of the progenitors came from Africa and 24% from America. Ninety two percent of those SCD patients born in Spain were detected in their first days of life due to universal screening detection implemented in Community of Madrid since 2003. Median age at first diagnosis was 1.42 years (0-21.4). Median age at the end of inclusion was 9.91 years (range 0.13 to 35.14).
SS or S/Betathal0 was reported in 86%. In addition, 2.39 % associated alfa gen deletion, and 1 (0.48 %) glucose 6 phosphate dehydrogenase deficiency. No patient had congenital thrombotic diathesis. Eighteen patients (8.65 %) had human leucocyte antigen (HLA) identical siblings.
Hydroxyurea was added to standard treatment in 65 patients (31%) of which 47 continue to be treated to date. Penicillin prophylaxis was communicated in 165 patients (79%). Vitamin-D prophylaxis was initiated in 128 patients (61%). Chronic exchange or simple transfusions existed in 26 cases (12%) and 9 children (4%) underwent splenectomy. None of these patients had sepsis or meningitis. Cholecystectomy was performed in 9 cases (4%).
There were 18 progenitor stem cell transplantations (8.61 %) performed between 2.09 to 13.97 years of age (median 6.77 years). Ten patients remained on complete chimerism, 6 on mixed chimerism and 1 attained a marrow rejection. One patient died of graft-versus-host disease.
Patients lost in follow-up summed up 128: 23 for emigrating to other countries, 65 for continuing the monitor of their diseases in other centers or in adults units and 31 for unknown reasons. There were 9 deaths (2.87 %).
Conclusion
Early diagnosis like universal neonatal screening allows an effective health education, and antibiotic and osteopenia prophylaxis with vitamin D and general and specific vaccination can be started.
Session topic: 25. Sickle cell disease
Keyword(s): Transplant, sickle cell disease, Screening, Diagnosis
Abstract: PB2143
Type: Publication Only
Background
Sickle cell disease (SCD) was scarcely diagnosed 2 decades ago in Spain, and the Community of Madrid is a paradigm of the adjustments that had to be implemented to attend an increase of cases due to immigration.
Aims
The aim of our study was to find out the prevalence of SCD in the referral center for sickle newborn screening in the Community of Madrid, in addition to the demographic characteristics of these patients. The secondary objectives were to obtain the frequency of specific treatments or prophylaxis accomplished by these patients, and the reasons for loss to follow-up.
Methods
The study is observational, unicentric, descriptive and retrospective, carried out in February 2017 in a tertiary hospital in the Community of Madrid, Spain. All patients diagnosed with SCD and who had attended at least once to the hematology clinic for this reason were included. Demographic characteristics (date of birth, gender, country of birth) and clinical characteristics (genotype, therapy and update in follow up, like alive, deceased or lost patient) were collected. Written informed consent was signed by patients or legal guardians in accordance with the Declaration of Helsinki. The study was approved by the hospital Ethical Committee. Statistical analyses were performed using SPSS version 18.0. Quantitative variables were reported as median or mean value and range, while categorical variables were expressed as absolute value and percentage.
Results
The total number of SCD patients included was 209. Ratio boy/girl is 1.3. Most of patients were born in Spain (85%), although 8% and 5.26 % were born in Africa or America respectively. Seventy three percent of the progenitors came from Africa and 24% from America. Ninety two percent of those SCD patients born in Spain were detected in their first days of life due to universal screening detection implemented in Community of Madrid since 2003. Median age at first diagnosis was 1.42 years (0-21.4). Median age at the end of inclusion was 9.91 years (range 0.13 to 35.14).
SS or S/Betathal0 was reported in 86%. In addition, 2.39 % associated alfa gen deletion, and 1 (0.48 %) glucose 6 phosphate dehydrogenase deficiency. No patient had congenital thrombotic diathesis. Eighteen patients (8.65 %) had human leucocyte antigen (HLA) identical siblings.
Hydroxyurea was added to standard treatment in 65 patients (31%) of which 47 continue to be treated to date. Penicillin prophylaxis was communicated in 165 patients (79%). Vitamin-D prophylaxis was initiated in 128 patients (61%). Chronic exchange or simple transfusions existed in 26 cases (12%) and 9 children (4%) underwent splenectomy. None of these patients had sepsis or meningitis. Cholecystectomy was performed in 9 cases (4%).
There were 18 progenitor stem cell transplantations (8.61 %) performed between 2.09 to 13.97 years of age (median 6.77 years). Ten patients remained on complete chimerism, 6 on mixed chimerism and 1 attained a marrow rejection. One patient died of graft-versus-host disease.
Patients lost in follow-up summed up 128: 23 for emigrating to other countries, 65 for continuing the monitor of their diseases in other centers or in adults units and 31 for unknown reasons. There were 9 deaths (2.87 %).
Conclusion
Early diagnosis like universal neonatal screening allows an effective health education, and antibiotic and osteopenia prophylaxis with vitamin D and general and specific vaccination can be started.
Session topic: 25. Sickle cell disease
Keyword(s): Transplant, sickle cell disease, Screening, Diagnosis
{{ help_message }}
{{filter}}