Contributions
Abstract: PB2410
Type: Publication Only
Background
Migratory flows changed the distribution of the incidence of hemoglobinopathies. Nowadays Sickle cell disease (SCD) is more frequent en the mediterranean area than beta or alpha thalassemia, until now typical in this area. The increase in the incidence of SCD and the need of an early treatment due to frequent and severe complications in the firsts years of life, have determined, by the National Health System, the inclusion of the deteccion of hemoglobinopathies as part of the newborn’s mandatory screening for endocrinal and metabolic pathologies.
Aims
This study presents data obtained after 23 months since this screening program in the Balearic islands.
Methods
Blood samples are obtained by newborn’s heel-pricks between the 2nd and 5th day of life, and they are analyzed in Son Espases Hospital’s Clinical Analysis Laboratory by high performance liquid chromatography (HPLC) with VARIANT system (BioRad). Positive cases for hemoglobin (Hb) variants were confirmed by peripheral blood samples from both parents (in case of FAS, FAC, FAX) or from both parents and newborn (in case of homozygous for FS or double heterozygous FSC or FSb). Samples were analyzed in the Eritropathology Laboratory in Son Espases Hospital by HPLC (Biorad-10) and Capillary Electrophoresis (Sebia Minicup).After checking results, an appointment is scheduled for the affected family with Hematology department, and there they are given information about the pathology, genetic counseling and a recommendations guide from the Spanish Society of Pediatric Hematology and Oncology. In homozygous cases, antibiotic prophylaxis is prescribed and a follow-up visit is scheduled. Data from this screening program are filed in a registry controlled by the Balearic Islands Ministry of Health.
Results
19197 samples were analyzed from Balearic Autonomous Community obtained between 25/04/2016 and 28/02/18. 105 cases were detected with some Hb variant (Table 1), with 3 of them homozygous for HbS.Due to the family hemoglobinopathy study another two cases (1 homozygous HbS, 1homozygous HbC), and 3 families were both parents were either heterozygous HbS or HbC were detected.
Table1. Hemoglobinopathy incidence in Balearic islands 25/04/2016 and 28/02/2018 | ||
Number of samples analyzed 19.197 | ||
| Number of cases | 1 every… |
FAS | 79 | 243,00 |
FAC | 20 | 959.85 |
FAD | 2 | 9599.50 |
Hb Burt | 1 | 19197.00 |
FS | 3 | 6399.00 |
Total | 105 | 182.83 |
Conclusion
Incidence of homozygous HbS in Balearic islands is similar to the one calculated in other observational studies among different Spanish territories, although we were able to detect a greater number of heterozygous Hb variants than in those other regions.The screening for hemoglobinopathies has been useful in the detection of cases affected of sickle cells disease in newborn and family members not yet diagnosed, and the instauration of early treatment.
Session topic: 27. Sickle cell disease
Keyword(s): Screening
Abstract: PB2410
Type: Publication Only
Background
Migratory flows changed the distribution of the incidence of hemoglobinopathies. Nowadays Sickle cell disease (SCD) is more frequent en the mediterranean area than beta or alpha thalassemia, until now typical in this area. The increase in the incidence of SCD and the need of an early treatment due to frequent and severe complications in the firsts years of life, have determined, by the National Health System, the inclusion of the deteccion of hemoglobinopathies as part of the newborn’s mandatory screening for endocrinal and metabolic pathologies.
Aims
This study presents data obtained after 23 months since this screening program in the Balearic islands.
Methods
Blood samples are obtained by newborn’s heel-pricks between the 2nd and 5th day of life, and they are analyzed in Son Espases Hospital’s Clinical Analysis Laboratory by high performance liquid chromatography (HPLC) with VARIANT system (BioRad). Positive cases for hemoglobin (Hb) variants were confirmed by peripheral blood samples from both parents (in case of FAS, FAC, FAX) or from both parents and newborn (in case of homozygous for FS or double heterozygous FSC or FSb). Samples were analyzed in the Eritropathology Laboratory in Son Espases Hospital by HPLC (Biorad-10) and Capillary Electrophoresis (Sebia Minicup).After checking results, an appointment is scheduled for the affected family with Hematology department, and there they are given information about the pathology, genetic counseling and a recommendations guide from the Spanish Society of Pediatric Hematology and Oncology. In homozygous cases, antibiotic prophylaxis is prescribed and a follow-up visit is scheduled. Data from this screening program are filed in a registry controlled by the Balearic Islands Ministry of Health.
Results
19197 samples were analyzed from Balearic Autonomous Community obtained between 25/04/2016 and 28/02/18. 105 cases were detected with some Hb variant (Table 1), with 3 of them homozygous for HbS.Due to the family hemoglobinopathy study another two cases (1 homozygous HbS, 1homozygous HbC), and 3 families were both parents were either heterozygous HbS or HbC were detected.
Table1. Hemoglobinopathy incidence in Balearic islands 25/04/2016 and 28/02/2018 | ||
Number of samples analyzed 19.197 | ||
| Number of cases | 1 every… |
FAS | 79 | 243,00 |
FAC | 20 | 959.85 |
FAD | 2 | 9599.50 |
Hb Burt | 1 | 19197.00 |
FS | 3 | 6399.00 |
Total | 105 | 182.83 |
Conclusion
Incidence of homozygous HbS in Balearic islands is similar to the one calculated in other observational studies among different Spanish territories, although we were able to detect a greater number of heterozygous Hb variants than in those other regions.The screening for hemoglobinopathies has been useful in the detection of cases affected of sickle cells disease in newborn and family members not yet diagnosed, and the instauration of early treatment.
Session topic: 27. Sickle cell disease
Keyword(s): Screening