Fig. 1: Pedigree of carriers of Cys506Ser in ACO1.
From: Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
All 62 carriers can be traced back to ancestors born in the late 18th century. The founding couple had eight offspring and a current total number of 5,430 descendants. Roman numerals indicate generation, mean hemoglobin concentration is noted below the symbols. square = male, circle = female, diamond = sex unspecified, solid filled object = carrier, half filled object = obligate carrier, red filled object = persistent anemia.
