[Congenital coagulation disorders in children (II) (Willebrand's disease, Christmas disease, factor IX, XI, XII, I, II, VII and V deficiencies)].
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Afibrinogenemia↗
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Blood coagulation factor VIII (antihemophilic factor): with comments on von Willebrand's disease and Christmas disease.
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Antibodies↗
An investigation of three patients with Christmas disease due to an abnormal type of factor IX.
Three patients with Christmas disease whose plasma was shown to have a prolonged one-stage prothrombin time with ox brain thromboplastin have been investigated. These patients have an inhibitor for the reaction between factor X, factor VII, and ox brain extract. The abnormal constituent responsible for this inhibitor appears to be factor IX whuch is functionally inactive but antigenically indistinguishable from normal factor IX. It is proposed that patients might be classified into haemophilia B(+) for patients with this defect (Christmas disease(+)) and haemophilia B(-) (Christmas disease(-)) for patients who have classical Christmas disease.
Animals↗
Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis.
Christmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952. The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals. This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.
Amino Acid Sequence↗
Hereditary ring sideroblastic anaemia and Christmas disease in a Swedish family.
The association of hereditary ring sideroblastic anaemia with Christmas disease in a Swedish family is described. We have studied the transmission of the sideroblastic trait, in relation to HLA groups and Christmas disease, and also evaluated the erythrocyte morphology, uroporphyrinogen-I-synthetase activity and S-ferritin for the detection of latent cases of ring sideroblastic anaemia. The proband had ring sideroblastic anaemia, Christmas disease and haemochromatosis. 3 cases of ring sideroblastic anaemia were found among the 12 family members studied. Using the factor IX deficiency as a marker of the X chromosome, it appeared that autosomal transmission of the sideroblastic trait was most likely. The sideroblastic trait did not seem to be linked to HLA-A3-alloantigen. Erythrocyte morphology was normal in all non-anaemic subjects. S-ferritin was found to be increased in all 3 cases of sideroblastic anaemia as well as in 1 non-anaemic relative. Erythrocyte uroporphyrinogen-I-synthetase was elevated in 10 of the 12 family members; those with sideroblastic anaemia had the highest values indicating that uroporphyrinogen-I-synthetase is of importance in the disturbed haem-synthesis of ring sideroblastic anaemia. This interpretation is supported by the positive correlation between S-ferritin values and the uroporphyrinogen-I-synthetase activity.
Anemia, Sideroblastic↗
Danazol increases factor VIII and factor IX in classic hemophilia and Christmas disease.
We gave danazol (600 mg per day orally for 14 days), an attenuated androgen, to four adults with classic hemophilia and one adult with Christmas disease. The levels of factor VIII in the patients with classic hemophilia ranged from 1 to 3 per cent before treatment and rose to 3 to 8 per cent during the treatment period. The level of factor IX in the patient with Christmas disease rose from 5 to 14 per cent. The rise in clotting-factor activity was usually observed within five to six days after the initiation of therapy and peaked between 7 and 13 days. The drug had no untoward effects. During the 70 patient-days of therapy, only two patients required plasma products, each on one occasion. These data suggest that danazol therapy may decrease the hemorrhagic tendency and reduce the need for transfusions of plasma products in classic hemophilia and Christmas disease. Controlled clinical trials will be required to establish its value in these applications.
Adult↗
Polycythaemia vera and Christmas disease with slightly prolonged prothrombin time.
A family is reported in which Christmas disease in one member and polycythaemia in another were associated with prolongations of the one-stage prothrombin time of the factor-VII deficiency type. Changes in the prothrombin time were present in the siblings of the case of Christmas disease and in a number of unrelated cases of polycythaemia vera. The use of "mixing procedures" did not reveal any significant mutual correction of the changes in prothrombin time.
Hemophilia A↗
Partial thromboplastin time test with kaolin: diagnosis of haemophilia and Christmas disease without natural reference plasmas.
Deficiencies of factor VIII (in haemophilia) and factor IX (in Christmas disease) prolong the partial thromboplastin time. If normal plasma is treated with alumina, the factor VIII remains but the factor IX is removed and can subsequently be recovered by elution of the alumina. If a long partial thromboplastin time is found on investigating a male patient whose history suggests a life-long bleeding disorder, the plasma may be retested after adding either alumina-adsorbed normal plasma or eluate. If the patient's partial thromboplastin time is shortened (relative to the control) by adding adsorbed normal plasma the patient is likely to be a haemophiliac; but if it is shortened by adding eluate then he is likely to have Christmas disease. Practical details for carrying out these manoeuvres are given and experiments on the validity of the test described.
Blood Coagulation Tests↗
Gastrectomy in siblings with Christmas disease (hemophilia B).
Gastrointestinal hemorrhage is regarded as one of the commonest clinical manifestations of classic hemophilia and Christmas disease. Although major surgery is usually avoided in such cases, recently we had 2 cases of Christmas disease in siblings who had undergone a successful gastrectomy and concomitant administration of a concentrated preparation of factor IX. In addition, findings in 7 other Japanese patients with hemophilia who underwent gastrectomy are discussed.
Blood Transfusion↗
Renal papillary necrosis in haemophilia and christmas disease.
Haematuria is common in haemophilia and Christmas disease. A variety of radiological abnormalities in the urinary tract has been described in the literature, the commonest being hydronephrosis and obstructive uropathy. The findings in 26 cases seen in this centre were reported by Beck and Evans in 1972; although urinary-tract obstruction was relatively common, it was noted that signs suggestive of renal papillary necrosis (RPN) were present in some cases. In the present study, 20 of these patients were reinvestigated up to 10 years after the original radiological studies; a total number of 46 past and present intravenous urograms were examined. There was evidence of RPN in 11 of the 20 patients, and in five of these the signs had changed over the intervening period. The relevance of these findings is discussed; none of the patients showed evidence of renal failure. It is suggested that episodes of urinary-tract obstruction could be related to papillary sloughing, in some cases, rather than clot obstruction or obstruction due to retroperitoneal bleeding.
Adult↗
A trial of prophylactic replacement therapy in haemophilia and Christmas disease.
A trial of prophylactic replacement therapy in low dosage once a week is described in two patients with classical haemophilia and one patient with Christmas disease, using concentrates of factor VIII and factor IX respectively. The clinical effectiveness and complications of the therapy are assessed and discussed. It was concluded that the patient suffering from Christmas disease showed both objective and subjective improvement while on prophylaxis and merited further study. Neither of the patients with haemophilia showed objective evidence of improvement, but both stated that they felt fitter and more able to lead a normal life while on the trial.
Adolescent↗
The spectrum of human immunodeficiency virus infection in patients with factor IX deficiency (Christmas disease)
Early reports suggested that hemophiliacs with factor IX deficiency (Christmas Disease) may be at less risk for developing the acquired immunodeficiency syndrome (AIDS) than patients with classic hemophilia. We evaluated 12 factor IX deficient patients for clinical and immunologic abnormalities related to infection with the human immunodeficiency virus (HIV). Antibody to HIV was not detected in these patients prior to 1982. By 1985, 66 percent (eight of 12) patients were seropositive. All three concentrates available commercially before 1985 were associated with seropositivity. Furthermore, seropositive hemophiliacs had received on average significantly more factor IX concentrate than seronegative hemophiliacs (27,825 +/- 17,976 (S.D.) versus 1,250 +/- 1,500 factor units/year, (p less than 0.02). Half of the seropositive individuals had generalized lymphadenopathy with splenomegaly. Two seropositive patients have developed AIDS, one with cryptococcal meningitis and another with a large cell immunoblastic lymphoma. Infection with HIV has occurred with high frequency in hemophiliacs who received unmodified factor IX concentrates.
AIDS-Related Complex↗
Tricuspid atresia with christmas disease (hemophilia B). Report of a case.
A case combining Christmas disease and tricuspid atresia is presented. A severe coagulation defect in a hypoxic, polycythemic patient poses an added grave risk to major surgery. In the presence of marked and worsening symptoms, however, major surgery can be performed in these difficult cases. Close liason with a skilled hematology department is essential. Minimal tissue dissection is advised, and the usefulness of a reversed saphenous vein conduit is described.
Adolescent↗
Subperiosteal orbital hemorrhage as initial manifestation of Christmas disease (factor IX deficiency).
PURPOSE: To report a case of subperiosteal orbital and subgaleal hemorrhage with optic nerve compromise in a patient with a factor IX deficiency. DESIGN: Interventional case report. METHODS: A 5-year-old male presented 10 days after mild trauma with progressive left-sided scalp swelling, proptosis, and visual loss. RESULTS: The patient had marked proptosis of the left eye, 20/200 visual acuity, and an afferent pupillary defect. Magnetic resonance imaging demonstrated a large subgaleal and left subperiosteal orbital hematoma. Quantitative assays of coagulation proteins identified a factor IX deficiency (Christmas disease). CONCLUSION: Delayed-onset subgaleal and subperiosteal orbital hematoma can rarely be an initial manifestation of Christmas disease.
Child, Preschool↗
Spontaneous disappearance of an IgA anti-factor IX inhibitor in a child with Christmas disease.
The few inhibitors to blood coagulation factor IX in patients with Christmas disease (hemophilia B) that have been studied have been shown to belong to the IgG class of immunoglobulins. We report the first case in which a factor IX inhibitor was of the IgA class. Additionally, he appears to be the youngest patient with hemophilia B to have developed an inhibitor. His inhibitor complicated treatment of the patient for several years because of its anamnestic rise following factor IX concentrate administration. It then spontaneously vanished and has not returned in spite of repeated factor IX complex administration.
Antibodies↗
Electroencephalography in haemophilia and Christmas disease.
Electroencephalography has been performed in a series of patients with haemophilia and Christmas disease because of the suggestion by other authors of a high incidence of abnormality. In an adult population of haemophiliacs no difference was found in the incidence of abnormalities compared with the general hospital population.
Adolescent↗
Coronary bypass in a patient with hemophilia B, or Christmas disease. Case report.
A 40-year-old patient with moderate factor IX deficiency (Christmas disease) underwent quadruple saphenous vein coronary bypass grafts for angina and severe coronary atherosclerosis involving the left and right main, left anterior descending, and circumflex coronary arteries. Excessive bleeding was prevented by infusion of factor IX concentrates during and after the operation. The surgical procedure and total body perfusion were carried out in the same manner as in patients without a hemorrhagic disorder. The patient was discharged after 13 days of hospitalization. He is doing well at the time of this publication and has returned to work.
Adolescent↗
Cosegregation of Christmas disease and major affective disorder in a pedigree.
Three males with factor-IX deficiency (Christmas disease) in one pedigree all had severe affective disorder. This apparent cosegregation, if true, would support the hypothesis that in some pedigrees, a gene for major affective disorder is located on the X chromosome.
Aged↗