{"id":25690,"date":"2022-08-31T11:09:48","date_gmt":"2022-08-31T11:09:48","guid":{"rendered":"https:\/\/www.babydetect.be\/diamond-blackfan-anaemie-dba\/"},"modified":"2024-11-21T09:35:54","modified_gmt":"2024-11-21T09:35:54","slug":"diamond-blackfan-anaemie-dba","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/de\/diamond-blackfan-anaemie-dba\/","title":{"rendered":"Diamond-Blackfan-An\u00e4mie (DBA)"},"content":{"rendered":"

21 Gene: <\/em>RPS19, RPL5, RPS26, RPL11, RPL35A, RPS10, RPS17, RPS24, GATA1, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPS7, RPS15A, RPS27, RPS28, RPS29, TSR2<\/p>\n

Auch bekannt als: Angeborene erythroide hypoplastische An\u00e4mie; Heredit\u00e4re Aplasie reiner roter Blutk\u00f6rperchen, Chronische angeborene aregenerative An\u00e4mie; Erythrogenesis imperfecta; AASE-Smith-Syndrom II; AASE-Syndrom<\/em><\/p>\n

Enth\u00e4lt:<\/strong><\/p>\n

– OMIM#105650<\/strong> https:\/\/omim.org\/entry\/105650<\/p>\n

– OMIM#610629 <\/strong>https:\/\/omim.org\/entry\/610629<\/a><\/p>\n

– OMIM#612561 <\/strong>https:\/\/omim.org\/entry\/612561<\/a><\/p>\n

– OMIM#613309 <\/strong>https:\/\/omim.org\/entry\/613309<\/a><\/p>\n

– OMIM#612562 <\/strong>https:\/\/omim.org\/entry\/612562<\/a><\/p>\n

– OMIM#612528<\/strong> https:\/\/omim.org\/entry\/612528<\/p>\n

– OMIM#613308 <\/strong>https:\/\/omim.org\/entry\/613308<\/a><\/p>\n

– OMIM#612527 <\/strong>https:\/\/omim.org\/entry\/612527<\/a><\/p>\n

– OMIM#300835 <\/strong>https:\/\/omim.org\/entry\/300835<\/a><\/p>\n

– OMIM#615550 <\/strong>https:\/\/omim.org\/entry\/615550<\/a><\/p>\n

– OMIM#618310 <\/strong>https:\/\/omim.org\/entry\/618310<\/a><\/p>\n

– OMIM#614900 <\/strong>https:\/\/omim.org\/entry\/614900<\/a><\/p>\n

– OMIM#617408 <\/strong>https:\/\/omim.org\/entry\/617408<\/a><\/p>\n

– OMIM#618312 <\/strong>https:\/\/omim.org\/entry\/618312<\/a><\/p>\n

– OMIM#612563 <\/strong>https:\/\/omim.org\/entry\/612563<\/a><\/p>\n

– OMIM#618313 <\/strong>https:\/\/omim.org\/entry\/618313<\/a><\/p>\n

– OMIM#606164 <\/strong>https:\/\/omim.org\/entry\/606164<\/a><\/p>\n

– OMIM#615909 <\/strong>https:\/\/omim.org\/entry\/615909<\/a><\/p>\n

– OMIM#300946<\/strong> https:\/\/omim.org\/entry\/300946<\/p>\n

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  1. Die Krankheit:<\/strong><\/li>\n<\/ol>\n

    Die Diamond-Blackfan-An\u00e4mie (DBA) ist gekennzeichnet durch eine hochgradige normochrome und meist makrozyt\u00e4re An\u00e4mie mit normalen Leukozyten und Blutpl\u00e4ttchen.<\/p>\n

      \n
    1. Die Symptome:<\/strong><\/li>\n<\/ol>\n

      Die An\u00e4mie wird fr\u00fch im Leben entdeckt, in der Regel innerhalb der ersten 2 Jahre; Eine Diagnose nach dem 4. Lebensjahr ist sehr unwahrscheinlich.<\/p>\n