Aged ; Female ; Hemophilia A ; complications ; Hemorrhage ; etiology ; Humans ; Mediastinal Diseases ; etiology

Adult ; Compartment Syndromes ; etiology ; Hemophilia A ; complications ; Humans ; Leg ; Male

We report a case of hemophilic pseudotumor in the ulna of a 6-year-old boy treated with radiation therapy. A total dose of 900 cGy in 6 fractions was given in 6 consecutive days. Progression of cystic changes was halted within a month. New bone formation and trabeculation were found on the 4th month. Complete healing of the lesion and bony replacement were found on the 12th month. The patient was followed up to 72 months and there was no evidence of recurrence and no bone growth disturbance. Radiation therapy can be an effective alternative modality in treating hemophilic pseudotumor.
Bone Cysts/radiotherapy* ; Bone Cysts/pathology ; Bone Cysts/etiology* ; Case Report ; Child ; Hemophilia A/pathology ; Hemophilia A/complications* ; Human ; Male ; Ulna/pathology*

Epistaxis ; diagnosis ; etiology ; Hemophilia B ; complications ; diagnosis ; Humans ; Male ; Young Adult

OBJECTIVETo explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).

METHODSPotential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.

RESULTSIS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.

CONCLUSIONThe prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.

Adolescent ; Female ; Hemophilia A ; etiology ; genetics ; Humans ; Karyotyping ; Polymerase Chain Reaction ; Receptors, Androgen ; analysis ; X Chromosome Inactivation

Bleeding into joint space is critical to develop hemophilic arthropathy. To reduce the frequency of bleeding in the ankle joint of children with hemophilic arthropathy, low dose external beam irradiation was performed for 37 patients. Among them, 35 patients followed-up for longer than 1 yr (median 87 months) were enrolled for analysis. The average number of bleedings per month was 3.6 during one year prior to radiation therapy. After radiation therapy, it was decreased to 2.1 during the first year, after then it was maintained in the range of 1.0 to 1.5 until the tenth year. The bleeding frequency was reduced to 42% at the first year and it was maintained in the range of 58% to 73% from the second to the tenth year. Especially the patients who had 3 or more bleedings per month, and who had MRI score more than 3 showed significant decreases. During the follow-up period, growth disturbances and secondary malignancies were not found. External beam radiotherapy can be considered for the hemophilic patients with surgical or isotope therapies are not amenable.
Adolescent ; *Ankle Joint/radiography ; Child ; Child, Preschool ; Hemarthrosis/etiology/*radiotherapy ; Hemophilia A/*complications ; Humans ; Male ; Prognosis

OBJECTIVETo investigate the molecular mechanism of a Chinese hemophilia A patient in whom there was a discrepancy between the clinical bleeding symptoms and laboratory assay of FVIII activity (FVIII: C).

METHODSFVIII: C was detected by chromogenic and one-stage methods, and FVIII: Ag by ELISA. The APTT corrected test was used to screen the FVIII inhibitor and PCR amplification to analyze all the exons and flanking sequences of F8 gene of the proband, PCR products were purified and sequenced directly. The corresponding gene sites of family members were detected according to the gene mutation sites. Two B domain deleted human FVIII mutant expression plasmids His99Arg and His99Ala (pRC/RS V - BDhFVIIIcDNA) were constructed and transfected into HEK293T transiently. FVIII: Ag and FVIII: C of the expression products were assayed.

RESULTSThe proband APTT was prolonged, FVIII: Ag was 120% but FVIII: C <1% and no FVIII inhibitor in plasma. The results of anticoagulation and fibrinolytic functions were normal. The cross reacting material positive (CRM+) hemophilia A was diagnosed. Gene analysis revealed a A28828G substitution in exon 3 resulted in a H (His) to R (Arg) missense mutation and the same heterozygous was identified in his mother. In vitro expression of FVIII: Ag and FVIII: C of His99Arg were 180.0% and 5.8% , respectively, while FVIII: Ag and FVIII: C of His99Ala were 45.0% and 20.0% of that of wild type, respectively. His99Arg and His99Ala were diagnosed as CRM+ and CRM- mutations, respectively.

CONCLUSIONBoth the two F VIII mutations could express FVIII protein. However, CRM His99Arg mutant protein has little FVIII procoagulant activity and His99Ala has reduced FVIII function by routine methods.

Adult ; DNA Mutational Analysis ; Factor VIII ; genetics ; Genotype ; Hemophilia A ; etiology ; genetics ; Humans ; Male ; Mutation, Missense

Aged, 80 and over ; Dyspnea ; etiology ; Glottis ; pathology ; Hematoma ; complications ; Hemophilia A ; complications ; Humans ; Laryngeal Diseases ; complications ; Male

To explore the diagnoses and treatment of hemophilic pseudotumor, one case with hemophilic pseudotumor misdiagnosed and treated by operation, was observed and analyzed. The result showed that the final diagnosis of this case was following: hemophilia A (mild type) and hemophilic pseudotumor with injury of femoral nerve. The final diagnosis was given from inquiring case history and family history additionally, and drawing assistance from laboratory examination and computed tomography. After operation, the patient's wound healed very well through supplying coagulation factors positively. In conclusion, it was important for inquiring case history and family history particularly and thinking highly of laboratory examination to reduce the misdiagnosis and error of therapy for this case. If paying attention to preoperative preparation, the danger of hemorrhage during operation can be reduced and wound after operation can heal more rapidly.
Adult ; Diagnostic Errors ; Femoral Nerve ; pathology ; Hematoma ; diagnosis ; etiology ; Hemophilia A ; complications ; Humans ; Male

The factor VIII gene is located on the X chromosome,making haemophilia A, a sex-linked disorder. Thus on pedigree grounds all daughters of such patients are obligate carriers. One female case of haemophilia A was reported and related literatures were reviewed.
Child ; Chromosomes, Human, X ; Epistaxis ; etiology ; genetics ; Factor VIII ; Female ; Hemophilia A ; complications ; genetics ; Humans