EPONYMS IN ANEMIAS

Cooley’s anemia:

                                                                    Thomas Benton Cooley

Beta Thalassemia major (inherited disorder due to defects in globin chain biosynthesis) also known as Cooley’s anemia, is named after Thomas Benton Cooley, an American pediatrician and hematologist and professor of hygiene and medicine at the University of Michigan and Wayne State University. He noted similarities in appearance and clinical course of four children of Greek and Italian ancestry who had severe anemia, massive hepatosplenomegaly, bone deformities and severe growth retardation. He called it as erythroblastic anemia which later was popularly known as Cooley’s anemia and then thalassemia. He presented his findings to the American Pediatric Society in 1925.

Diamond Blackfan anemia (DBA):

                                                    Louis Klein Diamond and Kenneth Blackfan

DBA is one of the inherited bone marrow failure syndromes, characterized by red cell failure, presence of congential anomalies and cancer predisposition. Joseph in 1936 and Diamond and Blackfan in 1938 were the first to describe this red cell failure in infants. Louis Klein Diamond was an American pediatrician, known as the “father of pediatric hematology”. Kenneth Blackfan was an American pediatrician, his particular interest was in nutrition and hematology.

Dresbach’s anemia:  Elliptocytosis, first described by Dresbach in 1940. Melvin Dresbach is an American physician. Hereditary elliptocytosis are a family of genetically determined erythrocyte disorders  characterized by elliptical red cells on the peripheral blood smear.

Fanconi anemia (FA):

                                                                          Guido Fanconi

FA is an inherited chromosomal instability syndrome, characterized by congenital anomalies, progressive pancytopenia and cancer susceptibility.  Guido Fanconi, Swiss pediatrician, first reported in 1927, a familial syndrome of pancytopenia and congenital physical abnormalities. The diagnostic hallmark of FA is increased chromosomal breakage in response to DNA damaging agents such as mitomycin c (MMC) or diepoxybutane (DEB).

References:

1.     Thomas Benton Cooley- Picture taken from google images, Wikipedia.

2.    Louis Klein Diamond- Picture taken from google images, pinterest.com.

3.    Kenneth Blackfan – Picture taken from google images, link.springer.com.

4.    Guido Fanconi- Picture taken from google images, Wikipedia.

                                                                                 Written by Dr.Priyavadhana B