Anaemias of oral significance

Anaemia is not a disease in itself. It is a sign of a single or multiple diseases. Anaemia is said to exist when the haemoglobin concentration is below normal for the age and sex of an individual. The synthesis and normal circulatory level of haemoglobin in any given individual depend on factors such as an adequate supply of haemopoietic nutrients, normal functioning of bone marrow, and proper utilization of haemoglobin. Based on these factors anemia can be broadly grouped into three categories: 1. Anaemia due to lack of haemopoietic nutrients (nutritional anemia) 2. Anaemia due to bone marrow dysfunction (aplastic anaemia) 3. Anaemia due to excessive breakdown of red blood cells (haemolytic anaemia) (AU)

The methylene blue reduction test: evaluation of a screening method for glucose-6-phosphate dehydrogenase deficiency

Male and female neonates, children and adults, and patients with hemolytic anemia, in whom subnormal erythrocye glucose-6-phosphate dehydrogenase deficiency was demonstrated on spectrophotometric assay, were all detected using the methylene blue reduction screening test. This finding and the results of mixing experiments suggested that it is as sensitive as the assay. Offering advantages over the screening tests, it is useful for surveys and for routine laboratory work. (AU)

Sickle cell Hb oarab disease - abstract

An infant presented with megaloblastic anaemia of folate deficiency complicating a haemolytic anaemia with hepatosplenomegaly. At first, the laboratory investigations indicated Hb SC disease but, as it is very unusual to see such severe clinical effects in this haemoglobinopathy, especially in infancy, further investigations were carried out which demonstrated a haemoglobin electrophoretically similar to Hb C but having certain distinguishing characteristics. This Hb was compared with Hb C and Hb E on various electrophoretic media. The tryptic peptide maps (prepared at the Institute for Anthropology, Leiden, Netherlands, by W. de Jong) showed an abnormality in beta Tp XIII and amino acid analysis further revealed that lysine had replaced the normal glutamic acid at the 121st residue in the beta chain. This substitution has been previously described for Hb O Arab. In the helical notation of Perutz this position, in the peptide chain, lies between the G and H helices, GH4. The glutamyl residue is invariant at this site in all human haemoglobin chains. Four mutations have been described at this site. One in the gamma chain, one in the alpha chain and two in the beta chain. The other one in the B chain is Hb D Punjab, and this also causes a more severe type of haemoglobinopathy when inherited together with Hb S. Another infant, presenting in a similar way, was found to have the same defect, Hb S with Hb O Arab. The mother of this second case has Hb O-Thalassaemia. A search was then carried out in patients who had previously been diagnosed as SC disease. Two further cases of Hb SO disease were found, making four families in all. The clinical features of Hb SO disease appear to be more like those of homozygous sickle cell desease than SC disease. There are more sickled cells in the blood, a lower haematocrit and haemoglobin level, a greater shift in oxygen dissociation curve and a shorter red cell survival. Hb O Arab is apparently not uncommon in Jamaica and all cases of suspected Hb SC disease who have a clinical course more like SS disease should be further investigated (AU)

Paroxysmal cold haemoglobinuria in Jamaica. A case report

Paraxysmal cold haemoglobinura is very rarely encountered in warm climates. A patient with haematological and serological evidence of the disease is described and current concepts on the haemolytic mechanism discussed. This brings to four the total cases recorded, occuring in warm climates (AU)

Haematological investigations of population samples in Jamaica

Haematological investigations have been carried out in Jamaican population samples of about 1,000 adults aged 35 to 64 years in an inland rural area, and about 500 adults of the same age in a suburban district. These formed 85 per cent. of random samples chosen from each area. The mean haemoglobin levels of women in the two areas were similar and only slightly lower than those reported in recent surveys in the United Kingdom. Men in the rural area had lower mean haemoglobin levels than in the suburban area and their mean values were more than 1 g./100 ml. lower than those in United Kingdom urban populations. Much of the anaemia detected was hypochromic and confirmed by low serum iron measurements, and hookworm is probably an important contributing factor in rural men, but as the difference in haemoglobin levels between men in the rural and suburban populations and in the United Kingdom were not accompanied by comparable differences in MCHC, factors other than iron-deficiency may contribute to them. Haemoglobin electrophoresis was carried out on 1,520 blood specimens and gene frequencies for haemoglobins, A, S, C, and G(Accra) have been calculated. Glucose-6-phosphate dehydrogenase deficiency was detected in 13.5 per cent. of men and 4.1 per cent of women in the rural area.(Summary)

Assay of folic acid deficiency in man

Three newer techniques for the assay of folic acid deficiency in man were evaluated and compared with the other method of employing the hematological response to physiological doses of folic acid. (1) The urinary formiminoglutamic acid (FIGLU) output before and after a histidine metabolic load correlated with clinical folic acid deficiency and with the therapeutic response to physiological doses of folic acid. (2) The plasma clearance of folic acid activity after a 15 ug/Kg B.W. doses of folic acid intravenously correlated with clinic folic acid deficiency in nutritional macrocytic anaemia and the malabsorption syndromes. It was not as useful in pregnancy and the chronic hemolytic anaemias. (3) The fasting serum folic acid activity level as measured by the L. casei microbiological assay was a useful index for clinical folic acid deficiency in macrocytic anaemia associated with malnutrition in the adult and in those with gastro-intestinal malabsorption syndromes. In the infant the range of serum levels was wide and many with clinical folic acid deficiency had levels in the normal range. In combined B12 and folic acid deficiencies, normal or elevated values for the plasma clearance and folic acid serum level, masked an underlying folic acid deficiency (AU)

The aplastic crisis in sickle-cell anaemia

Of 12 patients with aplastic crisis associated sickle-cell disease, eleven were children with sickle-cell anaemia, and one was an adult with sickle-cell haemoglobin-C disease. Ten of the cases were seen over a period of less than 7 months, and the syndrome may be commoner than has previously been supposed. Evidence is given to support the hypothesis that the distribution of sickle-cell and foetal haemoglobins in the erythrocytes in sickle-cell anaemia is not homogeneous. The fact that seven of the cases belonged to three families implies that infection may play an important aetiological role. This view is supported by the clinical presentation, and by the fact that one patient apparently had infectious mononucleosis. Bacterial and viral studies fail to demonstrate any aetiological agent in these cases (Summary)

Sickle-cell/haemoglobin-J disease

A case of sickle-cell/haemoglobin-J disease is reported. The interaction between the genes for haemoglobin S and J is not marked, resulting in a mild well-compensated haemolytic anaemia. Family studies suggest that the haemoglobin J was contributed by a Caucasian from North America.(AU)

The hereditary haemolytic syndromes

A review is made of recent developments in the study of the hereditary haemolytic syndromes. Current concepts in the pathogenesis of haemolysis are briefly discussed and the various intrinsic haemolytic disorders classified, with particular reference to anaemias due to red cell defects. The hereditary haemolytic syndromes are discussed in detail, as regards to both their genetic interrelationship and the recent demonstration of abnormal haemoglobin moieties in sickle cell trait and anaemia, and in haemoglobin C. disease. Reference is made to the recent application of paper electrophoretic analysis to the identification of these abnormal haemoglobins. Whilst hereditary sphercytosis and the thalassaemia syndromes are but rarely seen in the Caribbean area, the incidence of sickle cell trait is noted to vary between 5-12 percent of the mixed populations. Haemoglobin C. trait has been found to occur in 2 per cent of North American Negroes, so that these two anomalies alone or together may be present in a significant proportion of persons. Emphasis is placed on the potentiating effect which results from the linking of the dissimilar genes responsible for the hereditary haemolytic syndromes. The simultaneous occurrence of any one of these together with that determining the sickle cell trait is the probable cause of the so-called "mild" anaemia found to occur in those heterozygous children of whom one parent fails to show the sickling trait. It is stressed that while the hereditary haemolytic syndromes have many feature in common, the actual cause of red cell destruction varies with the shape to which the erythrocyte is ultimately changed (AU)