Syrians Claim First Case of Girl With Both Hemophilia A and C

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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A report describes — for the first time, according to study authors — the case of a girl who has both hemophilia A and C. To date, only 10 such cases had been documented in medical literature, all occurring in men.

The case report authors highlight the importance of considering hemophilia as a potential diagnosis in female patients experiencing unusual bleeding.

The study, “Hemophilia A and C in a female: The first case report in literature,” was published in the journal Annals of Medicine and Surgery.

Hemophilia A and C are inherited bleeding disorders, each marked by blood failing to clot properly due to the lack of specific clotting proteins.

In hemophilia A, mutations in the F8 gene impair the body’s ability to produce sufficient levels of clotting factor VIII (FVIII). In the case of hemophilia C, mutations in the F11 gene result in the lack of clotting factor XI (FXI).

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While hemophilia A affects men more often — the F8 gene is located in the X chromosome, of which men inherit only one copy — hemophilia C affects men and women equally, as the faulty gene is located on chromosome 4.

In this new report, researchers at the University of Aleppo, in Syria, described the case of a girl who lacked both FVIII and FXI.

The 17-year-old girl arrived at the hospital with prolonged bleeding from the nose and severe menstrual bleeding.  Her clinical history was uneventful, but marked by recurring episodes of prolonged nosebleeds during childhood, which also had been seen in her brother.

Physical examination showed signs of mild bruising, but without joint bleeding or jaundice (yellow discoloration of the skin and eyes). Her vital signs, including blood pressure and heart rhythm, were normal.

The activated partial thromboplastin time (aPTT) test, a lab test that measures the time needed for a blood clot to form, revealed her blood was taking longer than normal — specifically, 95 seconds — to clot. This prompted clinicians to test her for a series of bleeding disorders.

She eventually was diagnosed with both hemophilia A and C, after lab tests revealed low activity levels of both FVIII (41%) and FXI (48%). Another clotting factor called factor IX (FIX), whose deficiency causes hemophilia B, was within a normal range (63%).

No genetic analysis to confirm the presence of hemophilia-causing mutations was conducted, as “it is unavailable in Syria,” the researchers wrote.

Follow-up analysis of her family relatives revealed her father and one of her brothers also had low levels of FXI.

The girl was hospitalized and given an infusion of lab-made (recombinant) FVIII until recovery.

“Due to the poor general situation in Syria, we couldn’t follow up by frequent examining of factor VIII level or even continuing the treatment with recombinant factor VIII,” the researchers wrote.

She received a red blood cell transfusion and a gauze was placed inside her nose to stop nosebleeds. She also was treated with norethisterone, which mimics the action of the natural female hormone progesterone, to stop her menstrual cycle.

At follow-up, her overall health status had improved and she was no longer experiencing nosebleeds.

This is the first case in literature that mentions a female with both Hemophilia A and Hemophilia C,” the researchers wrote, noting that only 10 similar cases — all occurring in men — had been described to date.

“Although Von Willebrand disease is the most common hereditary bleeding disorder in females, other rare diseases could be suspected such as Hemophilia. X-linked Hemophilia should be kept in mind as a differential diagnosis in any female patient suffering from hemorrhage,” the investigators concluded.