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WHEN HEMOPHILIA APPEARS SUDDENLY IN A FAMILY WITHOUT A MEDICAL HISTORY OF HEMOPHILIA

In 30% of cases, hemophilia occurs in a family with no history of the disease. Stories.

Félix Álvarez
The incidence of acquired hemophilia is 1.5 cases per 1 million people each year.

When he was one year old, Félix Álvarez was taken to the hospital to receive the vaccines that corresponded to his age. Although his parents hoped that everything would pass normally, as is common, he would register a little fever and general malaise, however, a bleed in his buttock began to worry them.

Félix, from Lima-Peru, recalls that his parents have told him that the bleeding lasted for several days and that, after visiting several hospital centers, by chance they met a doctor who had undergone training in Japan. The professional, seeing the characteristics of the bleeding, told them that it could be hemophilia.

The same doctor sent them to a hospital in their country that cared for patients with the condition. However, at first there was a lot of confusion because the people with whom they spoke of this disease only knew the disease to be a genetic issue, transmitted from parents to children (see image hereditary transmission of hemophilia) but in their family, until then, there had not been any case recorded. Then they understood that there are also unique cases or mutations.

Incidents and causes
According to Gianluca Sottilotta, the hematologist of the Great Metropolitan Hospital Reggio Calabria Hemophilia Center – Italy, the incidence of acquired hemophilia is 1.5 cases per 1 million people each year. The doctor explains that 50% of cases can occur due to other diseases or clinical conditions such as pregnancy, the puerperium, autoimmune diseases (rheumatoid arthritis or lupus), tumors, leukemias, lymphomas or chronic respiratory diseases. However, according to Sottilotta, in the other 50% no apparent cause can be found, so the reasons remain unknown.


Regarding the types of hemophilia, the hematologist states that hemophilia A (absence of factor VIII) is more common than hemophilia B (absence of factor IX). While the prevalence of the former is 1 case per 10,000 births, in the latter it is 1 case per 30,000 births.

Other figures

  • In 30% of cases, hemophilia occurs in a family with no history of the disease.
  • 20% of acquired hemophilia cases occur in women after giving birth, either immediately or several months later.

Symptoms and Treatment
Felix, who is 39 years old today, is a biologist and has a special taste for genetics due to his condition. He has used plasma, blood, cryoprecipitates, and factor concentrates to treat him. Unfortunately, in the use of cryoprecipitates he was infected with the hepatitis C virus (HCV), which he dealt with for several years, and managed to overcome.

(It also happened to the Peruvian patient, during the 1970s and early 1980s, HCV infection contracted from factor concentrates was a relevant health problem in patients with bleeding disorders).

What the biologist has not managed to overcome is the damage that he suffers in his joints since childhood, a characteristic that prevails in patients with hemophilia. As far as symptoms are concerned, sudden bleeding and bruising are the most characteristic in the case of acquired hemophilia.

OTHER UNIQUE CASES

  • Alan Milan Mesa, Cuba
    “When I was 5 years old, my permanent teeth started to come in, at school they suggested to my parents that they take me to a hematologist because it was not normal for me to bleed so much with the replacement of each tooth”.
  • Alfredo Cruz, México
    “My 15-year-old son Gabriel was diagnosed with hemophilia B a year ago. This diagnosis happened after a dental extraction that had him bleeding for 4 days. There is no family medical history”.
  • Chuyiita Hernández, México
    “At 15 days old, my son was diagnosed with hemophilia A, after studies were carried out for a fairly large bruise on his little leg, which he presented after receiving a vaccination. We started investigating and we have no family history of the disease”.
  • Yaima Méndez, Cuba
    “My son’s hemophilia was detected at 8 months of age due to bruises that appeared very often. One day they sent him for tests. When they stuck his vein he started to bleed and he was bleeding nonstop for five hours”.
  • Juan Carlos Méndez, Venezuela
    “After two months of age, my son developed an impressive bruise on the mid-back level. At 4 months old it happened again and we were alarmed. After investigating, we found out that my wife’s family has a family history of the disease. Although the mutation had been cut more than 20 years ago, it returned and manifested itself in my child”.
Una vez el gen de la hemofilia se encuentra presente, existe la posibilidad de pasarlo a otras generaciones.
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One Response

  1. I,am Rosalie Alejandro 43 years old
    living in philipines and i Have two sons who diagnosed HEMOPHILIA A.
    Who doing Chemotreatment anytime with the Factor 8 .
    But to lack of our Financial Status we cant Support Thier Medicine because its too expensived .

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