EPIDEMIOLOGIC OVERVIEW OF CONGENITAL DYSERYTHROPOIETIC ANEMIA – UPDATED DATA FROM THE GERMAN CDA REGISTRY
(Abstract release date: 05/19/16)
EHA Library. Bommer M. 06/09/16; 132559; E1010
Dr. Martin Bommer
Contributions
Contributions
Abstract
Abstract: E1010
Type: Eposter Presentation
Background
Congenital dyserythropoietic anemia is a very rare hereditary disorder, leading to ineffective hematopoiesis, anemia and secondary hemochromatosis. According to the classification of Heimpel and Wendt (1968) at least four subtypes (CDA I – III, CDA variant) can be distinguished. Diagnosis is based upon morphological examination of blood and bone marrow. Genetic testing can confirm the diagnosis in many cases: CDA I – CDAN1, C15ORF41; CDA II - SEC23B; CDA III – KIF23; variant – KLF 1, GATA-1. Familial cases are autosomal recessive (CDA I, CDA II), autosomal dominant (CDA III) or variable (CDA variant).
Aims
The aim of this study was to analyze the prevalence of this very rare inherited anemia.
Methods
The German CDA registry was initiated in 1990 by Heimpel and coworkers and includes cases from all over the world. All patients known to the study group since 1967 have been documented. Data analysis is based upon an ACCESS database. Diagnosis was confirmed using the criteria published previously by Heimpel and Anselstetter (2003). From a minority of patients results from genetic testing are available. We analyzed the prevalence of CDA-subtypes in different continents. CDA IV is summarized within the CDA variant group.
Results
At the reporting date (13.02.2016) a total of 989 cases from 811 families were registered. Geographical analysis shows 751 patients are registered in Europe, 90 in America, 21 in Oceania (Australia, New Zeeland), 57 in Africa/near east (including Israel) and 70 in Asia. The most frequent subtype is CDA II, followed by CDA I. Most cases are reported in Italy, Spain, Great-Britain, Germany and Israel (data not shown). Detailed information is given in table 1.
Conclusion
Prevalence of congenital dyserythropoietic anemia in the different countries is very heterogeneous, reflecting the rarity and the lack of awareness of the disease. Nevertheless the diagnosis is under reported due to numerous cases with only mild symptoms misdiagnosed as myelodysplastic syndrome or unclassified hemolytic anemia.
Session topic: E-poster
Type: Eposter Presentation
Background
Congenital dyserythropoietic anemia is a very rare hereditary disorder, leading to ineffective hematopoiesis, anemia and secondary hemochromatosis. According to the classification of Heimpel and Wendt (1968) at least four subtypes (CDA I – III, CDA variant) can be distinguished. Diagnosis is based upon morphological examination of blood and bone marrow. Genetic testing can confirm the diagnosis in many cases: CDA I – CDAN1, C15ORF41; CDA II - SEC23B; CDA III – KIF23; variant – KLF 1, GATA-1. Familial cases are autosomal recessive (CDA I, CDA II), autosomal dominant (CDA III) or variable (CDA variant).
Aims
The aim of this study was to analyze the prevalence of this very rare inherited anemia.
Methods
The German CDA registry was initiated in 1990 by Heimpel and coworkers and includes cases from all over the world. All patients known to the study group since 1967 have been documented. Data analysis is based upon an ACCESS database. Diagnosis was confirmed using the criteria published previously by Heimpel and Anselstetter (2003). From a minority of patients results from genetic testing are available. We analyzed the prevalence of CDA-subtypes in different continents. CDA IV is summarized within the CDA variant group.
Results
At the reporting date (13.02.2016) a total of 989 cases from 811 families were registered. Geographical analysis shows 751 patients are registered in Europe, 90 in America, 21 in Oceania (Australia, New Zeeland), 57 in Africa/near east (including Israel) and 70 in Asia. The most frequent subtype is CDA II, followed by CDA I. Most cases are reported in Italy, Spain, Great-Britain, Germany and Israel (data not shown). Detailed information is given in table 1.
| Region | CDA I | CDA II | CDA III | Variant | Total |
| Europe | 145 | 437 | 32 | 137 | 751 |
| America | 12 | 38 | 13 | 27 | 90 |
| Oceania | 8 | 10 | 0 | 3 | 21 |
| Asia | 27 | 32 | 3 | 8 | 70 |
| Africa/Near East | 37 | 18 | 0 | 2 | 57 |
| ∑ | 229 | 535 | 48 | 177 | 989 |
Conclusion
Prevalence of congenital dyserythropoietic anemia in the different countries is very heterogeneous, reflecting the rarity and the lack of awareness of the disease. Nevertheless the diagnosis is under reported due to numerous cases with only mild symptoms misdiagnosed as myelodysplastic syndrome or unclassified hemolytic anemia.
Session topic: E-poster
Abstract: E1010
Type: Eposter Presentation
Background
Congenital dyserythropoietic anemia is a very rare hereditary disorder, leading to ineffective hematopoiesis, anemia and secondary hemochromatosis. According to the classification of Heimpel and Wendt (1968) at least four subtypes (CDA I – III, CDA variant) can be distinguished. Diagnosis is based upon morphological examination of blood and bone marrow. Genetic testing can confirm the diagnosis in many cases: CDA I – CDAN1, C15ORF41; CDA II - SEC23B; CDA III – KIF23; variant – KLF 1, GATA-1. Familial cases are autosomal recessive (CDA I, CDA II), autosomal dominant (CDA III) or variable (CDA variant).
Aims
The aim of this study was to analyze the prevalence of this very rare inherited anemia.
Methods
The German CDA registry was initiated in 1990 by Heimpel and coworkers and includes cases from all over the world. All patients known to the study group since 1967 have been documented. Data analysis is based upon an ACCESS database. Diagnosis was confirmed using the criteria published previously by Heimpel and Anselstetter (2003). From a minority of patients results from genetic testing are available. We analyzed the prevalence of CDA-subtypes in different continents. CDA IV is summarized within the CDA variant group.
Results
At the reporting date (13.02.2016) a total of 989 cases from 811 families were registered. Geographical analysis shows 751 patients are registered in Europe, 90 in America, 21 in Oceania (Australia, New Zeeland), 57 in Africa/near east (including Israel) and 70 in Asia. The most frequent subtype is CDA II, followed by CDA I. Most cases are reported in Italy, Spain, Great-Britain, Germany and Israel (data not shown). Detailed information is given in table 1.
Conclusion
Prevalence of congenital dyserythropoietic anemia in the different countries is very heterogeneous, reflecting the rarity and the lack of awareness of the disease. Nevertheless the diagnosis is under reported due to numerous cases with only mild symptoms misdiagnosed as myelodysplastic syndrome or unclassified hemolytic anemia.
Session topic: E-poster
Type: Eposter Presentation
Background
Congenital dyserythropoietic anemia is a very rare hereditary disorder, leading to ineffective hematopoiesis, anemia and secondary hemochromatosis. According to the classification of Heimpel and Wendt (1968) at least four subtypes (CDA I – III, CDA variant) can be distinguished. Diagnosis is based upon morphological examination of blood and bone marrow. Genetic testing can confirm the diagnosis in many cases: CDA I – CDAN1, C15ORF41; CDA II - SEC23B; CDA III – KIF23; variant – KLF 1, GATA-1. Familial cases are autosomal recessive (CDA I, CDA II), autosomal dominant (CDA III) or variable (CDA variant).
Aims
The aim of this study was to analyze the prevalence of this very rare inherited anemia.
Methods
The German CDA registry was initiated in 1990 by Heimpel and coworkers and includes cases from all over the world. All patients known to the study group since 1967 have been documented. Data analysis is based upon an ACCESS database. Diagnosis was confirmed using the criteria published previously by Heimpel and Anselstetter (2003). From a minority of patients results from genetic testing are available. We analyzed the prevalence of CDA-subtypes in different continents. CDA IV is summarized within the CDA variant group.
Results
At the reporting date (13.02.2016) a total of 989 cases from 811 families were registered. Geographical analysis shows 751 patients are registered in Europe, 90 in America, 21 in Oceania (Australia, New Zeeland), 57 in Africa/near east (including Israel) and 70 in Asia. The most frequent subtype is CDA II, followed by CDA I. Most cases are reported in Italy, Spain, Great-Britain, Germany and Israel (data not shown). Detailed information is given in table 1.
| Region | CDA I | CDA II | CDA III | Variant | Total |
| Europe | 145 | 437 | 32 | 137 | 751 |
| America | 12 | 38 | 13 | 27 | 90 |
| Oceania | 8 | 10 | 0 | 3 | 21 |
| Asia | 27 | 32 | 3 | 8 | 70 |
| Africa/Near East | 37 | 18 | 0 | 2 | 57 |
| ∑ | 229 | 535 | 48 | 177 | 989 |
Conclusion
Prevalence of congenital dyserythropoietic anemia in the different countries is very heterogeneous, reflecting the rarity and the lack of awareness of the disease. Nevertheless the diagnosis is under reported due to numerous cases with only mild symptoms misdiagnosed as myelodysplastic syndrome or unclassified hemolytic anemia.
Session topic: E-poster
{{ help_message }}
{{filter}}