{"id":24842,"date":"2022-08-31T11:09:48","date_gmt":"2022-08-31T11:09:48","guid":{"rendered":"https:\/\/www.babydetect.be\/diamond-blackfan-anemie-dba\/"},"modified":"2024-10-31T15:04:23","modified_gmt":"2024-10-31T15:04:23","slug":"diamond-blackfan-anemie-dba","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/nl\/diamond-blackfan-anemie-dba\/","title":{"rendered":"Diamond-Blackfan-anemie (DBA)"},"content":{"rendered":"

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

Ook bekend als: Congenitale erytro\u00efde hypoplastische anemie; Erfelijke aplasie van zuivere rode bloedcellen, chronische aangeboren generatieve anemie; erythrogenesis imperfecta; Syndroom van AASE-Smith II; AASE-syndroom<\/em><\/p>\n

Bevat:<\/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

    \n
  1. De ziekte:<\/strong><\/li>\n<\/ol>\n

    Diamond-Blackfan-anemie (DBA) wordt gekenmerkt door een diepe normochrome en meestal macrocytaire anemie met normale leukocyten en bloedplaatjes.<\/p>\n

      \n
    1. De symptomen:<\/strong><\/li>\n<\/ol>\n

      De bloedarmoede wordt vroeg in het leven ontdekt, meestal binnen de eerste 2 jaar; Diagnose na de leeftijd van 4 jaar is zeer onwaarschijnlijk.<\/p>\n