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Introduction:
Christmas disease (Hemophilia B, factor IX hemophilia) is
a rare bleeding disorder due to deficiency of coagulation
factor IX 1. Most commonly factor IX is quantitatively
reduced, but in one-third of cases an abnormally
functioning molecule is immunologically present. Factor
IX deficiency is one–seventh as common as factor VIII
deficiency hemophilia but is otherwise clinically and
genetically identical.

Factor IX deficiency or dysfunction occurs in 1 in 100,000
male births2. Accurate laboratory diagnosis is critical, since
it is indistinguishable clinically from factor VIII deficiency
(hemophilia A) but requires different treatment.

Case Report:
A 25 years old college student hailing from Mymenshing
got himself admitted in BSMMU hospital on 2nd February,
2009 with complaints of pain and restricted movement of
left hip joint for 10 days, recurrent swelling and pain in
multiple joint for last 20 years and prolonged bleeding
following minor trauma since childhood.

On examination patient is mildly anaemic, non icteric, pulse-
92/min, BP- 110/70 mm of Hg, no edema or
lymphadenopathy. On examination of musculoskeletal
system, there was wasting of thigh and calf muscles, tone
was normal, power was 4/5, movement was reduced in
both knee & elbow joints, as well as left hip joint. Nervous
system and other system examination reveled nothing
abnormal.

Christmas Disease (Hemophilia –B) – A Case Report
Md. Rafiqul Alam1, Mohammad Saiful Habib2, Mohammad Arifur Rahman2, Md. Mizanur Rahman Khan2, M A Jalil
Chowdhury 3, Taimur A K Mahmud3
1Assistant Professor, 2 Medical Officer,3Professor, Department of Medicine, Bangabandhu Sheikh Mujib Medical University, Shahbag,
Dhaka-1000, Bangladesh

Abstract:
We report a 25 years old man developed Haemarthrosis of left hip joint with a history of recurrent swelling and pain in
multiple joints and prolonged bleeding following minor trauma since childhood. Subsequent investigations revealed
Christmas disease (Haemophilia B). Hemophilia B is an X-linked bleeding disorder. This case emphasises the importance of
considering a diagnosis of haemophilia in a man with unexplained bleeding, even in the absence of a positive family history.

[BSMMU J 2009; 2(2): 90-91]

Address of Correspondence: Dr. Md. Rafiqul Alam, Assistant
Professor, Department of Medicine, Room No: 632, Block- C,
BSMMU, Email: taimur@bsmmu.org

Investigation findings were Hb-15gm/dl, ESR-20mm in 1st
hour, Platelet count-330000/cmm, PBF- Normal, BT- 2.30
sec, CT- 6.00 sec, PT- 14.5 sec (INR-1.2), APTT- 82.8 sec,
Plasma factor VIII activity – 121% and Plasma factor IX
activity – 3.9%. Considering all features he was diagnosed
as a case of Christmas disease with Haemarthrosis of left
hip joint and was treated with fresh frozen plasma only.

Discussion:
Christmas diseases is an X-linked recessive disorder. Only
males are affected 3. All daughters of diseased are obligate
carriers and sisters have a 50% chance of being a carrier. If
a carrier has a son, he has a 50% chance of having
Christmas disease, and a daughter has a 50% chance of
being a carrier .Female carriers of Christmas disease may
suffer due to lyonisation. Here there is a low level of factor
IX coagulant activity (Normal- 50-150%) 4. Most common
site of bleeding are joints (knee, ankles, elbows), muscles
and from gastrointestinal tract. Patients with severe
disease bleed spontaneously. A severely affected, may
have one or two bleeds each week. Recurrent bleeding
into joints lead to synovial hypertrophy, destruction of
the cartilage and secondary osteoarthrosis. Muscle
haematoma (calf and psoas muscles) are also characteristic
of this disease. Untreated haematomas causes subsequent
contraction and shortening. Intracranial hemorrhage also
occur which is often fatal.

In Christmas disease APTT is prolonged. Prothrombin time,
bleeding time, fibrinogen level and VWF are normal. Factor
VIII activity is normal but factor IX activity is reduced5.
Christmas disease is managed with factor IX concentrates.
80 units/ Kg is necessary to achieve a 100% level. Half-life
of factor IX is 18 hours. During major surgery 80 units/Kg
(6000 U) initially followed by 40 units/Kg (3000 U) every

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18 hours. Factor IX concentrates can be used
prophylactically twice weekly6. DDAVP is not useful in
this disorder. Patient should be cautioned to avoid aspirin.
All patients should be registered at comprehensive care
centers (CCC) for Medical, Social and Psychological
Supports.

References:
1 . Bolton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet

2003; 361(9371): 1801-1809.

2 . Mannucci PM, Duga S, Peyvandi F. Recessively inherited
coagulation disorders. Blood 2004; 104(5):1243-1252.

3 . Murphy MF, Pamphilon DH. Practical Transfusion medicine.
Oxford: Blackwell Science; 2001.

4 . Provan D, Gribben J (2000) Molecular Haematology. Oxford
: Blackwell Science.

5 . Beutler E, Lichtman MA. Williams Hematology, 6th ed New
York: Mc Graw-Hill; 2001.

6 . Mannucci PM. Treatment of Von Willebrand’s disease. N
Engl J Med 2004; 351(7):683-694.

BSMMU J Vol. 2, Issue 2, July 2009

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