Fanconi anaemia Clinical features

Fanconi Anemia Image Cafe Lait Spots

Since the first description by Fanconi in 1927, FA has become to be recognized as an autosomal recessive disorder in which there is progressive BM failure and an increased predisposition Table 12.2 Characteristics ofthe bone marrow failure syndromes. SCN IAA Inheritance pattern AR XLR, AR, AD AR AD and AR AR AD, AR Bone marrow failure AA (> 90 ) AA ( 80 ) AA (20 ) RCA Megs Neutropenia Yes (100 ) Chromosome Number of genes At least 7 At least 3 1 At least three Genes AA, aplastic anaemia AD,...

Disorders of the glycolytic pathway

Mutations of most of the enzymes in the glycolytic pathway have been described in association with congenital non-spherocytic haemolytic anaemia (CNSHA). However, deficiency of pyruvate kinase (PK) is far and away the most common defect. The haemolysis is the result of a failure to produce sufficient ATP. PK catalyses the final steps of the glycolytic pathway with the conversion of phosphoenolpyruvate (PEP) to pyruvate, with the concomitant phosphorylation of ADP to ATP, leading to overall net...

Standardization of antihuman globulin reagents

All antiglobulin reagents available at present, monospecific or polyspecific, are standardized by the producer and issued pre-diluted for immediate use or within the gel or bead matrix of a microcolumn. Antiglobulin reagents standardized for use in haemagglutina-tion tests should not agglutinate red cells, regardless of their ABO type, after incubation with compatible serum i.e. they should be free of unwanted antibodies, especially anti-species . The antiglobulin reagent should not agglutinate...

Dyskeratosis congenita Clinical features

Dyskeratosis Congenita

Classical dyskeratosis congenita (DC) is an inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Figure 12.4). Since its first description in 1906 by Zinsser, a variety of non-cutaneous Table 12.5 Somatic abnormalities in dyskeratosis congenita. Table 12.5 Somatic abnormalities in dyskeratosis congenita. Premature hair loss greying sparse eyelashes Liver disease peptic ulceration enteropathy Osteoporosis aseptic necrosis scoliosis...

The red cell membrane and chemistry of blood group antigens

Membrane Blood Group Antigens

The red cell membrane is composed of about 40 w w lipids and up to 10 carbohydrates, the remainder being proteins. The exact arrangement of its components is still unresolved, but a rough model is shown in Figure 14.1. The lipids of the red cell membrane can be subdivided into 60 w w phospholipids, 30 w w neutral lipids mainly cholesterol and 10 w w glycolipids. The phospholipids and glycolipids play a role in the structure of the membrane and are thought to be important in the maintenance of...

Naturally occurring and immune antibodies

Antibodies are naturally occurring when they are produced without any obvious immunizing stimulus such as pregnancy, transfusion or injection of blood. These antibodies are not present at birth and, in the case of anti-A and anti-B, start to appear in the serum of children with the appropriate ABO groups at about 3-6 months of age. ABO antibodies are probably produced in response to antigens of bacteria, viruses and other substances that are inhaled or ingested many Gram-negative organisms have...