Do you know about Diamond and a Blackfan in our Blood?

 Diamond-Blackfan anemia

                               It is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells.

                               Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as,   

                                  1.Small head size (microcephaly)

                                  2.Characteristic facial features, cleft palate, cleft lip, short and webbed neck,                                        3.Small shoulder blades

                                  4.Defects of the hands (mostly of the thumbs)

                                  5.Defects of the genitalia, urinary tract

                                  6.Defects in eyes and heart.

                            In some cases, there is also "short stature".

Pathology in Diamond-Blackfan anemia :

                                                   Diamond-Blackfan anemia is caused by mutations in several genes, some of which have been identified and some of which have not.

                                                    Identified genes include but are not limited to: "RPS19, RPL5,  RPS10, RPL11, RPL35A, RPS7, RPS17, RPS24,  RPS26, and GATA1 genes".