(1998). Familial Hemolytic Anemia Due to Hb Sabine [β91(F7)Leu←Pro] Identified BY Polymerase Chain Reaction. Hemoglobin: Vol. 22, No. 3, pp. 263-266.

Conference Article| April 01 1989 Detection of carriers of haemophilia A by restriction fragment length polymorphisms P. C. WINTER; P. C. WINTER 1Department of Haematology, Royal Victoria Hospital, Belfast BT12 6BA, U.K. Search for other works by this author on: This Site PubMed Google Scholar E. E. MAYNE E. E. MAYNE 1Department of Haematology, Royal Victoria Hospital, Belfast BT12 6BA, U.K. Search for other works by this author on: This Site PubMed Google Scholar Biochem Soc Trans (1989) 17 (2): 366–367. https://doi.org/10.1042/bst0170366 Article history Received: September 30 1988 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Cite Icon Cite Get Permissions Citation P. C. WINTER, E. E. MAYNE; Detection of carriers of haemophilia A by restriction fragment length polymorphisms. Biochem Soc Trans 1 April 1989; 17 (2): 366–367. doi: https://doi.org/10.1042/bst0170366 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsBiochemical Society Transactions Search Advanced Search Keywords: kbp, kilo-base-pairs This content is only available as a PDF. © 1989 Biochemical Society1989 Article PDF first page preview Close Modal You do not currently have access to this content.

Using seven skin test antigens the cell-mediated immune response was evaluated in 20 haemophiliacs, 10 human immunodeficiency virus (HIV) antibody-positive and 10 antibody-negative. Response rates were compared with 75 healthy males of similar age range. All haemophiliac patients displayed significant impairment of cell-mediated reactivity to the test antigens; however, there was no apparent correlation with HIV antibody status.

A case of upper limb venous thrombosis in a patient with nephrotic syndrome secondary to amyloidosis is described. Although thrombosis of both venous and arterial systems is a recognised complication of the nephrotic syndrome, the site reported is rare. There is no evidence that amyloidosis in the absence of nephrotic syndrome is associated with an increased clotting tendency; haemorrhage appears more likely.

The investigation of a 33 year old man with a lifelong bleeding tendency is described. Defective fibrinolysis was suspected in 1968, when clinical bleeding was corrected by administration of aminocaproic acid. The paper establishes the diagnosis as alpha 2-antiplasmin deficiency and describes its management with oral tranexamic acid.

Antithrombin III, factor VIII, fibrinogen and fibrinolytic activity were measured in two groups of long-standing insulin-dependent diabetic subjects (24 with proliferative retinopathy, 24 without detectable retinopathy) and 24 non-diabetic controls. Mean antithrombin III (+/- 1 SD) was 115.9 (+/- 15.1), 109.8 (+/- 18.1) and 101.4% (+/- 12.5), respectively, in the retinopathy, non-retinopathy and control groups. Statistical significance was obtained when comparing the retinopathy and control groups (p < 0.001) and when comparing all 48 diabetics collectively with controls (p < 0.01). Mean factor VIII coagulant activity was 137.5 (+/- 37.0), 126.2 (+/- 58.2) and 97.0% (+/- 38.7), respectively, in the three groups. Again the differences between all diabetics and controls (p < 0.01) were statistically significant. Similar increases were observed for other modalities of factor VIII activity. Fibrinolytic activity was significantly increased in both diabetic groups but fibrinogen levels, although increased, were not statistically different from levels in controls. It is suggested that the observed changes are more likely to be secondary to the development of retinopathy and that the increase in antithrombin III activity is due to an increase in alpha 2-macroglobulin.

Platelet adhesiveness and the levels of two coagulation factors, fibrinogen and factor VIII, were studied in a series of diabetic and nondiabetic control subjects. All three measurements were significantly abnormal in the diabetic patients. The increase in platelet adhesiveness was capable of distinguishing the diabetics on a group basis, but not on individual results. The greatest increase in platelet adhesiveness was demonstrated in patients with ischaemic heart disease and diabetes. Increased platelet adhesiveness was seen in individuals of both diabetic and control groups, in whom no clinical or electrocardiographic evidence of ischaemic heart disease was found. This finding is discussed, also the relationship between platelet adhesiveness levels and the age, sex, duration of disease, blood glucose and serum lipid levels of the diabetic patients.