Menu
Disease
A-Z
Health Topics
Alternative Medicine
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
View all Topics
Featured Articles
Anaphylaxis
Cushing's syndrome
Circumcision
Hypospadias
Anal itching
Diabetic ketoacidosis
Kids Corner
Health and Knowledge with fun.
Drugs &
Calculators
Medical Calculators
Drug Calculators
Growth Calculators
Renal Calculators
View all Calcualtors
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Equipments
Diagnostic Aid
Get your diffrential
diagnosis.
Consult
& Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Day
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric
Journal
Current Issue
Archives
About the Journal
Submit Article
Books
& Apps
Book Store
Pediatric Oncall
Medical Calculators
Vaccine Reminder
Pediatric Oncall Journal
Drug Center
Parenting
CME &
Videos
Upcoming Conferences
Conference Abstracts
MCQs
Videos
Vaccine
Reminder
Sign In
Diseases and Conditions
›
Pediatric Hematology
›
Hemophilia
Hemophilia
Dr Ira Shah
More..
How Is Hemophilia Diagnosed?
Prolonged PTT (Prothrombin thromboplastin time) with a normal PT (Prothrombin time) and normal bleeding time is suggestive of hemophilia. It is confirmed by doing the factor assay.
Prenatal Diagnosis
Chorionic villus biopsy at 8 weeks gestation on amniocentesis at 12-14 weeks can be used for prenatal diagnosis by DNA analysis if the mother's carrier state is demonstrated either by mutation analysis or Restriction Fragment Length polymorphism study. If DNA analysis is not available, fetal blood can be aspirated at 18-20 weeks gestation. If pure fetal blood is obtained, factor VIII activity can be assayed. If fetal blood mixed with amniotic fluid is obtained, factor VIII: Ag can be measured.
Carrier Detection
Most carriers have a factor VIII level between 30-70 U/dl. Factor VIII levels should be assayed in all females who might be carriers to identify those with levels below 30U/dL. These women should be treated the same way as male hemophiliac with similar factor levels.
Assays of factor VIII activity and VWF: Ag can be used to predict whether a given woman is a carrier. If the factor VIII level is below normal, then she is designated as a true carrier. If her factor VIII level is in the normal range, but her VWF :Ag is higher, then she is a true carrier.
When a definite diagnosis of the carrier state can not be made, the probability of being a carrier is calculated from family tree analysis.
Recently, carrier identification can be done by examination of factor VIII gene and DNA analysis and Restriction fragment length polymorphisms
Dr Ira Shah
Hemophilia
Hemophilia
12/20/2000
12/20/2000
×
Contributor Information and Disclosures
Dr Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India
First Created:
12/20/2000
×
References
<<
Clinical Presentation Of Hemophilia
How Is Hemophilia Treated?
>>
Related
More from Hemophilia
Hemophilia - Introduction
Clinical Presentation Of Hemophilia
Hemophilia Inheritance
How Is Hemophilia Treated?
Various Treatment Regimes
General Measures
Gene Therapy
Other Complications
Joint Protection In Hemophiliacs
Hemophilia - Patient Education
More from Pediatric Hematology
Acanthocytosis
Anemia
Aplastic Anemia
Blood Groups
Blood Transfusion
View all from Pediatric Hematology
Ask a Doctor
New Book Arrival
Infection in Children -
Part 2
Order Now
Recommended for you
Food Allergies
Kernicterus
Rheumatic Fever (RF) And Rheumatic Heart Disease (RHD)
Spot Diagnosis
Chest Pain in the Emergency Department
Crusting and Hyperkeratosis in an Infant
Acute genital ulcer in a 14-month-old girl
View All
Grand Round
Dilemma
Tuberculous Pleural Effusion- Residual Pleural Thickening
Answer
Malaria treatment
Drooling of saliva
Fever, pancytopenia, hepatitis
A 7 year old girl presented with edema of feet since birth. She is otherwise asymptomatic. On examin...
Answer
Hypoplastic marrow
Non-resolving pulmonary tb
Liver abscess
Pediatric Oncall Journal
Case Reports
Letter To Editor(Viewers Choice)
A Case of Conservatively Managed Pneumopericardium in a Neonate
Grand Rounds
Is it Gaucher’s Disease or Niemann-Pick’s disease?
MCQ
MCQs Set 2
MCQs Set 3
MCQs Set 4
MCQs on Infectious Diseases
MCQs in Neonatal Resuscitation
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
X
Sign In
Disease A-Z
Health Topics
Alternative Medicine
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
View all topics
Featured Articles
Anaphylaxis
Cushing's syndrome
Circumcision
Hypospadias
Anal itching
Diabetic ketoacidosis
Kids Corner
Drugs & Calculators
Medical Calculators
Drug Calculators
Growth Calculators
Renal Calculators
View all Calculators
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Eqipments
Diagnostic Aid
Consult & Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Day
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric Oncall Journal
Current Issue
Archives
About the Journal
Submit Article
Books & Apps
Book Store
Pediatric Oncall
Medical Calculators
Vaccine Reminder
Pediatric Oncall Journal
Drug Center
Parenting
CME & Videos
Upcoming Conferences
Conference Abstracts
MCQs
Videos
Vaccine Reminder