Approximately 50% of female carriers of hemophilia A have factor VIII (FVIII) levels below 0.5 IU/dL and may be categorized as having mild hemophilia. Females with hemophilia may go undiagnosed for years because the most common symptoms – menorrhagia and bleeding after childbirth – also occur in females without hemophilia. Females with hemophilia can exhibit increased bleeding tendencies despite current guidelines of expected, adequate FVIII levels. The cases described illustrate the clinical variability and presentation of hemophilia in females and highlight the importance of a timely diagnosis, effective management, and monitoring. Prophylactic factor replacement therapy is recommended in females with hemophilia, particularly those with joint disease or gynecologic complications. Affected individuals should receive infusion training and education on treatment options, physical activities, the importance of treatment adherence, and recognizing bleeding symptoms warranting treatment. Further study is needed to increase awareness of hemophilia in females and reassess current guidelines for their management and monitoring.

1.
World Federation of Hemophilia
. Guidelines for the management of hemophilia. 2012. Available from: https://www.wfh.org/en/resources/wfh-treatment-guidelines. Accessed: December
2018
.
2.
World Federation of Hemophilia
. Carriers and women with hemophilia. 2012. Available from: https://www.wfh.org/en/abd/carriers/carriers-and-females-with-hemophilia-en. Accessed: December
2018
.
3.
Kasper
C
,
Buzin
C
. Genetics of hemophilia A and B: an introduction for clinicians, 2007.
2019
. Available from: https://www.researchgate.net/publication/237777538_GENETICS_OF_HEMOPHILIA_A_AND_B_An_introduction_for_clinicians_2007
4.
Medical and Scientific Advisory Council (MASAC)
. MASAC recommendations regarding girls and women with inherited bleeding disorders. 2016. Available from: https://www.hemophilia.org/Researchers-Healthcare-Providers/Medical-and-Scientific-Advisory-Council-MASAC/MASAC-Recommendations/MASAC-Recommendations-Regarding-Girls-and-Females-with-Inherited-Bleeding-Disorders. Accessed: December
2018
.
5.
Srivastava
A
,
Brewer
AK
,
Mauser-Bunschoten
EP
,
Key
NS
,
Kitchen
S
,
Llinas
A
, et al;
Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia
.
Guidelines for the management of hemophilia
.
Haemophilia
.
2013
Jan
;
19
(
1
):
e1
47
.
[PubMed]
1351-8216
6.
Khair
K
,
Holland
M
,
Pollard
D
.
The experience of girls and young women with inherited bleeding disorders
.
Haemophilia
.
2013
Sep
;
19
(
5
):
e276
81
.
[PubMed]
1351-8216
7.
Runyan
B
,
Kuester
MK
.
Incidence rate of females with hemophilia may be underreported.
Milliman White Paper.
2017
.
8.
Mauser-Bunschoten
EP
.
Symptomatic carriers of hemophilia.
Treatment of Hemophilia.
2008
. Available from: http://www1.wfh.org/publication/files/pdf-1202.pdf
9.
Gilbert
L
,
Rollins
L
,
Hilmes
M
,
Luo
Y
,
Gailani
D
,
Debaun
MR
, et al
Haemophilia A carriers demonstrate pathological and radiological evidence of structural joint changes
.
Haemophilia
.
2014
Nov
;
20
(
6
):
e426
9
.
[PubMed]
1351-8216
10.
Sidonio
RF
,
Mili
FD
,
Li
T
,
Miller
CH
,
Hooper
WC
,
DeBaun
MR
, et al;
Hemophilia Treatment Centers Network
.
Females with FVIII and FIX deficiency have reduced joint range of motion
.
Am J Hematol
.
2014
Aug
;
89
(
8
):
831
6
.
[PubMed]
0361-8609
11.
Plug
I
,
Mauser-Bunschoten
EP
,
Bröcker-Vriends
AH
,
van Amstel
HK
,
van der Bom
JG
,
van Diemen-Homan
JE
, et al
Bleeding in carriers of hemophilia
.
Blood
.
2006
Jul
;
108
(
1
):
52
6
.
[PubMed]
0006-4971
12.
Olsson
A
,
Hellgren
M
,
Berntorp
E
,
Ljung
R
,
Baghaei
F
.
Clotting factor level is not a good predictor of bleeding in carriers of haemophilia A and B
.
Blood Coagul Fibrinolysis
.
2014
Jul
;
25
(
5
):
471
5
.
[PubMed]
0957-5235
13.
Paroskie
A
,
Gailani
D
,
DeBaun
MR
,
Sidonio
RF
 Jr
.
A cross-sectional study of bleeding phenotype in haemophilia A carriers
.
Br J Haematol
.
2015
Jul
;
170
(
2
):
223
8
.
[PubMed]
0007-1048
14.
Carcao
MD
,
van den Berg
HM
,
Ljung
R
,
Mancuso
ME
,
Altisent
C
,
Auerswald
G
, et al;
PedNet and the Rodin Study Group
.
Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A
.
Blood
.
2013
May
;
121
(
19
):
3946
52
.
[PubMed]
0006-4971
15.
Blanchette
VS
,
Key
NS
,
Ljung
LR
,
Manco-Johnson
MJ
,
van den Berg
HM
,
Srivastava
A
;
Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis
.
Definitions in hemophilia: communication from the SSC of the ISTH
.
J Thromb Haemost
.
2014
Nov
;
12
(
11
):
1935
9
.
[PubMed]
1538-7933
16.
Byams
VR
,
Kouides
PA
,
Kulkarni
R
,
Baker
JR
,
Brown
DL
,
Gill
JC
, et al;
Haemophilia Treatment Centres Network Investigators
.
Surveillance of female patients with inherited bleeding disorders in United States Haemophilia Treatment Centres
.
Haemophilia
.
2011
Jul
;
17
Suppl 1
:
6
13
.
[PubMed]
1351-8216
17.
Paroskie
A
,
Oso
O
,
Almassi
B
,
DeBaun
MR
,
Sidonio
RF
 Jr
.
Both hemophilia health care providers and hemophilia a carriers report that carriers have excessive bleeding
.
J Pediatr Hematol Oncol
.
2014
May
;
36
(
4
):
e224
30
.
[PubMed]
1077-4114
18.
Di Michele
DM
,
Gibb
C
,
Lefkowitz
JM
,
Ni
Q
,
Gerber
LM
,
Ganguly
A
.
Severe and moderate haemophilia A and B in US females
.
Haemophilia
.
2014
Mar
;
20
(
2
):
e136
43
.
[PubMed]
1351-8216
19.
Manco-Johnson
MJ
,
Abshire
TC
,
Shapiro
AD
,
Riske
B
,
Hacker
MR
,
Kilcoyne
R
, et al
Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia
.
N Engl J Med
.
2007
Aug
;
357
(
6
):
535
44
.
[PubMed]
0028-4793
20.
Miesbach
W
,
Alesci
S
,
Geisen
C
,
Oldenburg
J
.
Association between phenotype and genotype in carriers of haemophilia A
.
Haemophilia
.
2011
Mar
;
17
(
2
):
246
51
.
[PubMed]
1351-8216
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.