PubMed · 5981446
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S Swarup. 1966. Haemoglobin D.. https://pubmed.ncbi.nlm.nih.gov/5981446/
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Flaky skin (gene symbol fsn) is an autosomal recessive mutation that causes pleiotropic effects of anemia, papulosquamous skin disorder, and gastric forestomach hyperplasia. In this report, we assign fsn to distal chromosome 17 and characterize the anemia. The decrease in hematocrit levels and red blood cell counts is significant and persists throughout life in fsn/fsn mice. There is compensatory enlargement of the heart, liver, and spleen by 8 weeks of age, whereas the thymus is less than one half normal weight. Nucleated cell counts in the peripheral blood are increased 15- to 30-fold, primarily due to an increased percentage of normoblasts. The fsn/fsn mice examined at 8 weeks of age have significantly increased reticulocyte counts and protoporphyrin levels but reduced hemoglobin concentration, suggesting possible abnormalities of hemoglobin metabolism. Erythrocyte membrane fragility is normal. Compared with normal +/? littermates, fsn/fsn mice (1) lack splenic and hepatic stores of elemental iron, (2) have the ability to transport 59Fe across the duodenal cells and into the blood, (3) have increased levels of transferrin in serum, and (4) have acute loss of urinary 59Fe. Hemolysis is indicated by increased serum bilirubin and high blood reticulocyte numbers. Collectively, the genetic, hematologic, and pathologic data indicate a severe hematologic disorder caused by homozygosity for the fsn mutation that differs from other known hematologic mutations in the mouse. The mechanism whereby fsn induces the reported pleiotropic effects has yet to be elucidated.
Five dogs with nonregenerative anemia were treated with human immunoglobulin as a 12-hour IV infusion, at dosages ranging from 0.5 to 1.5 g/kg of body weight. All dogs had a rapid response to treatment, with reticulocytosis within 1 to 4 days and a substantial increase in hematocrit within 3 to 8 days of treatment. In 2 of 5 dogs, the hematocrit returned to values within reference range and remained in the reference range for 8 to 14 months after treatment, despite discontinuing or tapering prednisone treatment to a low dose. In 3 of 5 dogs, the hematocrit did not return to the reference range. In 1 of these 3 dogs, the hematocrit remained at the new, increased value (26 to 28%) for 248 days after treatment, at which time the dog was euthanatized. In the other 2 dogs, the hematocrit had decreased to pretreatment values by 52 days after treatment. Retreatment of these 2 dogs resulted in a similar, but blunted, response to human immunoglobulin. Human immunoglobulin may be an effective treatment for some dogs with immune-mediated anemia that fail to respond to conventional treatment.
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