Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seventy premature infants (birthweight 1.75 kg or less, gestational age 33 weeks or less) with hemoglobin less than 10 g/dL and hematocrit less than 30% were studied and randomly divided into three groups. All of them received oral elemental iron 3 mg/kg/day and vitamin E 5 mg/kg/day during the study period. Recombinant human erythropoietin (rHuEPO) 150 U/kg was administered intravenously twice a week for 4 weeks in group A (26 infants). Infants in group A received a total of 4 erythrocyte transfusions because of frequent apnea. Infants in group B (25 infants) received erythrocyte transfusion when their hemoglobin levels was less than 10 g/dL with signs and symptoms (including tachycardia, tachypnea, poor feeding, apnea, poor weight gain) attributed to anemia or who had a hemoglobin less than 8 g/dL even if asymptomatic. Infants in group B received a total of 36 erythrocyte transfusions. Infants in group C (19 infants) were assigned to a non-rHuEPO and nontransfusion group. Three of the 19 premature infants in group C received erythrocyte transfusions later because of frequent and prolonged apneic episodes and were excluded from this study. Our data revealed that reticulocyte and serum erythropoietin values were higher (p < 0.01) in rHuEPO-treated group than transfusion group and hemoglobin and hematocrit values were lower in group C than the other two groups during the rHuEPO treatment period. No significant difference (p > 0.05) was found in neutrophil and platelet counts among these three groups. Serum ferritin values were found lower in the rHuEPO-treated group than the other two groups. Lower weight gain was found in infants in group C. We conclude that rHuEPO administration can reduce the need for blood transfusion. Poor weight gain can be found in infants with anemia of prematurity who do not receive rHuEPO or blood transfusion therapy.
 ...
PMID:Recombinant human erythropoietin in the treatment of anemia of prematurity. 854 Sep 30

A two-month-old male infant presented with a clinical picture suggestive of fever without focus. Treatment was initiated with broad spectrum intravenous antibiotics. The infant subsequently developed septic shock, hepatosplenomegaly and tachypnoea with oxygen dependency. There was laboratory evidence of anemia, thrombocytopenia and a leukemoid reaction. Infection induced hemophagocytic lymphohistiocytosis with a leukemoid reaction was suspected because of fever, splenomegaly and bicytopenia in conjunction with elevated serum triglycerides and ferritin. Empiric therapy with doxycycline caused a rapid resolution of the fever, and the diagnosis of scrub typhus was confirmed by a positive scrub IgM ELISA. HLH with a leukemoid reaction secondary to scrub typhus has not previously been reported in early infancy.
...
PMID:Hemophagocytic lymphohistiocytosis with a leukemoid reaction in an infant with scrub typhus. 2612 73

Heme oxygenase-1 (HO-1) is an inducible enzyme involved in the catalysis of heme conversion into biliverdin. We describe a patient with a novel stop-gain mutation in the HMOX1 coding sequence resulting in HO-1 deficiency. A 17-month-old female with fever, tachypnea, and signs of respiratory distress was referred to our center. Four admissions ensued during the eight months follow up. At the first admission, she had massive pericardial effusion without any laboratory findings for tuberculosis, viral infectionsor malignancies.An abdominal ultrasound examination confirmed hepatomegaly.Laboratory findings showed leukocytosis, thrombocytosis, hemolytic anemia, elevated inflammatory markers, increased levels of the hepatic transferase, triglycerides and ferritin as well as decreased level of fibrinogen. Other laboratory investigations were negative blood cultures, normal bone marrow aspiration, and normal serology viral infections. Immunodeficiency and auto-inflammatory syndromes were ruled out. Hepatic biopsy showed iron deposits. The patient was initiated on corticosteroids; however, her clinical condition was progressively deteriorated, and she died of recurrent fever, bleeding, heart failure, and ascites. Post-mortem whole exome sequencing revealed a homozygous mutation (exon3: c.A610T, p.K204X) on the HMOX1 gene. The parents were found to be heterozygous for that mutation. The laboratory findings and clinical features of our patient were somehow similar to that of HO-1 deficient cases reported previously, as well as Hmox1 knocked out mice. We speculate that the clinical manifestations of HO-1 deficient patients can be partially dependent on the type of mutation they inherit.
 ...
PMID:Post-mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child. 3258 40