ABSTRACT
A total of 244 patients with hereditary haemolytic anaemias (HHA) were screened for acute symptomatic human parvovirus B19 infection (HPV-B19) in a prospective study. To assess the risks associated with HPV-B19 infection, patients were classified into Group I and Group II according to presence or absence (symptoms, signs and specific serology) of acute HPV-B19 infection respectively. In all, 131 (53·7%) patients had ß-thalassaemia, 75 (30·7%) hereditary spherocytosis (HS), 27 (11·1%) sickle cell anaemia (SCA) and 11 (4·5%) glucose-6-phosphate dehydrogenase (G6PD) deficiency. Of 33 (13·5%) patients who presented with symptomatic HPV-B19 infection, 19 (57·5%) had HS, nine (27·3%) had ß-thalassaemia and five (15·2%) had SCA. In Group I, there were significant differences in the mean white blood cell, red blood cell and platelet counts, haemoglobin concentration, total bilirubin (TB), alanine aminotransferase, aspartate aminotransferase and serum creatinine (all P < 0·001) compared to Group II. In all, 27 (81·8%) patients had arthropathy and bone marrow failure (BMF); 13 (39·4%) had acute kidney injury (AKI), more in SCA (80%); and 12 (36·4%) patients had hepatitis, more in HS (66·8%). Five (15·2%) patients with HS had BMF, AKI, nervous system involvement and extreme hyperbilirubinaemia (TB range 26·3-84·7 mg/dl). Five (15·2%) patients had haemophagocytic syndrome. Two patients with HS combined with Type-I autoimmune hepatitis presented with transient BMF. Complete recovery or stabilisation was noted at 12 months in every patient except for one patient with SCA who died during the infection. HPV-B19 must be suspected and screened in patients with HHA with typical and atypical presentations with careful follow-up.
Subject(s)
Anemia, Hemolytic, Congenital , Bone Marrow Failure Disorders , Erythema Infectiosum , Hepatitis , Hyperbilirubinemia , Parvovirus B19, Human/metabolism , Acute Disease , Adolescent , Adult , Anemia, Hemolytic, Congenital/blood , Anemia, Hemolytic, Congenital/mortality , Anemia, Hemolytic, Congenital/virology , Bone Marrow Failure Disorders/blood , Bone Marrow Failure Disorders/mortality , Bone Marrow Failure Disorders/virology , Child , Erythema Infectiosum/blood , Erythema Infectiosum/mortality , Female , Follow-Up Studies , Hepatitis/blood , Hepatitis/mortality , Hepatitis/virology , Humans , Hyperbilirubinemia/blood , Hyperbilirubinemia/mortality , Hyperbilirubinemia/virology , Male , Middle Aged , Prospective StudiesABSTRACT
Serum unconjugated bilirubin (UCB) levels > 205.2 mumol/L were present in 120 of 143 cases of neonatal hyperbilirubinaemia. Sixty-five per cent (78/120) cases showed bilirubin crystals in the neutrophils of Leishman's stained smears from EDTA blood. The proportion of crystal positive (CP) neutrophils was higher in septicaemia than in Haemolytic Disease of Newborn (HDN). Mortality rate was significantly higher (P < 0.001) in CP septicaemic cases when compared with those which were crystal negative (CN).
Subject(s)
Bilirubin/analysis , Jaundice, Neonatal/blood , Jaundice, Neonatal/diagnosis , Neutrophils/chemistry , Anemia, Hemolytic, Congenital/blood , Anemia, Hemolytic, Congenital/diagnosis , Anemia, Hemolytic, Congenital/mortality , Bilirubin/chemistry , Bilirubin/metabolism , Crystallization , Female , Humans , Infant, Newborn , Jaundice, Neonatal/mortality , Male , Prognosis , Sepsis/blood , Sepsis/mortality , Survival RateABSTRACT
The authors consider the contribution made by genetic factors to perinatal and infant mortality on the basis of many-year studies performed in the Minsk Teratology Center and analysis of the data available in the literature. In 1972-1984 there was an increase in the incidence of congenital malformations among deceased children. Genetic factors predispose to at least 7-8% postimplantation embryonal and fetal elimination. Perinatal and neonatal mortality is caused by congenital malformations in 19.1 and 37% of cases, respectively. A genetic analysis has indicated that 23.2% of them are induced by genic, chromosomal, and genomic mutations and 51.0% are caused multifactorially. The prevention of genetically determined perinatal mortality is most effective in implementing the screening programs for detection of heterozygous carriage along with subsequent prospective examination and prenatal diagnosis.
Subject(s)
Congenital Abnormalities/genetics , Anemia, Hemolytic, Congenital/genetics , Anemia, Hemolytic, Congenital/mortality , Congenital Abnormalities/mortality , Female , Humans , Hydrops Fetalis/genetics , Hydrops Fetalis/mortality , Infant, Newborn , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/mortality , PregnancyABSTRACT
Severe hemolytic in Basenji dogs secondary to pyruvate kinase deficiency was corrected by marrow transplantation from hematologically normal littermates. These dogs have now been followed for more than 5.5 yr. Essentially normal hematopoiesis has persisted, and the dogs remain in good health without cirrhosis or osteosclerosis. Furthermore, hepatic iron overload present before transplantation has gradually decreased. These results in dogs suggest that marrow transplantation could prevent the morbidity and mortality of severe hemolytic anemia and associated iron overload in man.
