Analysis Tools
mortality/aging
|
• Background Sensitivity: while approximately 75% of homozygotes on this mixed background survive to adulthood, the average lifespan is 5.75 months
|
|
• approximately 25% of homozygotes die postnatally
(J:44313)
• 28% die before weaning
(J:162532)
|
hematopoietic system
|
• severe splenomegaly with areas of necrosis and fibrosis develops in adults with most of the splenic mass made of red pulp
(J:44313)
|
|
• cell surface expression of phosphatidylserine is higher than in wild-type controls, with 13.1% of erythrocytes straining positive for phosphatidylserine versus 1.6% in wild-type controls
|
|
• adults have very low red blood cell count, 3,740,000/ul instead of 9,150,000/ul
|
|
• less than half of normal numbers
|
|
• hematocrit of adults is much lower than normal, 22.5% instead of 45% in controls
(J:44313)
• mean hematocrit is reduced to 24.9% from 50.4% in wild-type controls
(J:162532)
|
|
• decreased to 16.9% compared to 29.8% in controls
|
|
• greatly reduced hemoglobin of 3.7 g/dL compared to 13.5 g/dL in controls
(J:44313)
• mean hemoglobin content is reduced to 5.35 g/dl from 15.64 g/dl in wild-type controls
(J:162532)
|
|
• mean MCV raised from 48.1 in wild-type controls to 59.7
|
|
• more than 4 times normal levels
|
microcytosis
(
J:62355
)
|
• the percentage of erythroid cells that are microcytes is much larger than in wild-type controls
|
|
• mean percent of reticulocytes is substantially increased from 3.16% in wild-type controls to 91.2%
|
|
• sodium content of erythrocytes is elevated to 64.2 mEq/l from 12.4 mEq/l in wild-type controls, and the membrane cholesterol and phospholipid content is reduced
|
|
• average erythrocyte lifespan of approximately 1 day
|
|
• the osmotic fragility curve for erythrocytes shows broader sensitivity to osmotic lysis, with a subpopulation more sensitive and a suppopulation less sensitive
|
muscle
|
• infarcts are found in the myocardium, ventricular or ventricular septal regions, and atrial walls of surviving adult homozygotes
|
immune system
|
• severe splenomegaly with areas of necrosis and fibrosis develops in adults with most of the splenic mass made of red pulp
(J:44313)
|
homeostasis/metabolism
|
• in surviving adults large thrombi are found within the heart mainly in the mitral or left atrioventricular valve
(J:44313)
• 100% of homozygous adults display cardiac thrombi
(J:62355)
|
|
• extraordinary amounts of iron accumulate in the adult kidney, particularly within the proximal convoluted tubules, leading to green colored urine by 2 to 3 months of age and progressing to hydronephrosis and possible renal failure
|
|
• significant iron stores are found in hepatic cells of the adult, but not in the hematopoietic regions of the liver or in the Kupffer cells
|
renal/urinary system
|
• extraordinary amounts of iron accumulate in the adult kidney, particularly within the proximal convoluted tubules, leading to green colored urine by 2 to 3 months of age and progressing to hydronephrosis and possible renal failure
|
liver/biliary system
|
• significant iron stores are found in hepatic cells of the adult, but not in the hematopoietic regions of the liver or in the Kupffer cells
|
|
• although not jaundiced at birth, homozygotes develop severe jaundice within hours of being born
|
cardiovascular system
|
• infarcts are found in the myocardium, ventricular or ventricular septal regions, and atrial walls of surviving adult homozygotes
|
|
• cardiac chambers of surviving adults are dilated
|
nervous system
brain lesion
(
J:44313
)
|
• infarctions are found in adult cerebrum, hippocampus, and cerebellum, are generally unilateral, and microthrombi are sometimes found close to the infarction
|
growth/size/body
|
• cardiac chambers of surviving adults are dilated
|
|
• severe splenomegaly with areas of necrosis and fibrosis develops in adults with most of the splenic mass made of red pulp
(J:44313)
|
reproductive system
infertility
(
J:162532
)
