Update: November 2018
Hemophilia is a genetic syndrome that manifests
coagulation disorder and related to hemorrhagic
diathesis (coagulopathy). Of all hemorrhagic diathesis
hemophilia in one form or another is most common.
Hemophilia is one of the historically known diseases, its
called the “royal disease.” In the history of Russia, the disease
hemophilia began to figure in the Romanov dynasty. British
Queen Victoria was the bearer of the hemophilia gene and transmitted it
four out of five children. Her son Leopold was sick with hemophilia, and three
Victoria, Alice and Beatrice’s daughters became carriers of the gene. Alice
gave birth to a girl – the future Russian Empress Alexandra Feodorovna
Romanova, nee Alice of Hesse-Darmstadt.
Alexandra Feodorovna had five children, 4 daughters since childhood.
differed very weak immunity, all had had measles, often
suffered colds that were complicated by otitis and pneumonia.
But the only son of the royal family, the long-awaited crown prince
Alexey was sick much more seriously. Already at the age of two months
massive bleeding from an umbilical wound opened to him. Then
hemorrhages and hemorrhages in the joints chased the baby
The sole heir is extremely protected and invited the best
doctors “Elder Gregory also took part in the treatment of the prince.
Rasputin ”, which was addressed in moments of despair. We do not know,
how long Alexey would have lived in peacetime, since his life
interrupted by two shots of the Bolsheviks July 17, 1918.
How does the disease occur?
Hemophilia genes are recessive. Recessive genes are
conditionally “weak” genes, and in most cases genetic
diseases, clinical manifestations of hemophilia are possible only
if both the father of the child and the mother have genotype
these recessive genes, and they met in a child’s genotype.
But in the case of hemophilia, the situation is somewhat different. Hemophilia
Is a disease linked to the X chromosome.
The gene responsible for the development of hemophilia is attached to
X chromosome, both in mother and father. Father genotype by sex
chromosomes XY, the mother – XX.
Thus, hemophilia is inherited through the maternal line, so
how the boy gets from his father Y – the chromosome, and from the mother
X chromosome. The girl has one healthy X chromosome
overlaps defects second. The boy has the X chromosome in a single
copy and “block” it in the event of a defect with nothing.
Who is sick?
If the boy inherited defective mother carrier
X chromosome, he will be sick with hemophilia. Y-chromosome does not
linked to the hemophilia gene.
In the overwhelming number of cases, girls do not suffer from hemophilia, but
may be carriers of a defective gene. A girl can hurt
only in exceptional cases when her mother is the carrier of the gene, and
father has hemophilia. In this case, the mother carrier gives
defective X chromosome, and the only father (also defective)
Classification по типам
- hemophilia type A – defect VIII coagulation factor
(antihemophilic globulin in combination with von Willebrand factor).
- hemophilia type B – defect IX coagulation factor (factor
- combined form – defects VIII and IX factors (found
This classification is essential for the selection of medical
Classification по тяжести состояния
The severity of the disease depends on the degree of infestation.
coagulation system. In all children, it can be detected in different
degree. It depends on the severity of the genetic defect.
- latent (hidden. erased) – according to various sources from 15 to
- mild – about 5-15%;
- average severity – about 1-5%;
- severe – less than 1%.
The clinical classification of hemophilia does not exist, since
the clinic is of the same type and differs only in intensity
Clinical manifestations (signs) of hemophilia
A hemophilia clinic is the formation of hemorrhages in various
organs and tissues. The type of bleeding is hematomatic, which means that
hemorrhages are large, painful and delayed
Hemorrhage can be formed in 1-4 hours after
traumatic impact. First react vessels (spasm) and
platelets (coagulating blood cells).
And hemophilia vessels and blood cells do not suffer, their function is not
broken, so the bleeding stops first.
But then, when it comes to the formation of a dense thrombus and
final stop bleeding, the process enters
defective plasma link of blood coagulation system (plasma
contains defective coagulation factors) and bleeding
So all the following pathological conditions are formed,
What signs can a newborn baby have?
Neonatal manifestations of hemophilia may be masked,
if the baby is breastfed since he is
receives from the mother with breast milk, including factors
coagulation. It often happens that the manifesto of the disease accounted for
breastfeeding period of more than 1 month. With
bottle-feeding symptoms appear earlier and
The characteristic signs of coagulation disorders in
newborn baby are:
- кефалогематома значительных размеров (скопление крови в
the gap between the bones of the skull and the scalp) with independent
childbirth in headache
- гематомы на ягодицах при самостоятельных родах в
- позднее кровотечение из остатка пупочного канатика.
To clarify the diagnosis, should be tested (see below).
Hemorrhagic rash – это сыпь различной величины и
manifestations occurring on the skin spontaneously or mechanically
impact. Often, the impact is minimal, for example,
измерение артериального давления или следы резинок на одежде
Depending on the severity of the disease, the rash may pass
independently while respecting the gentle regime and the absence
trauma, and can spread and turn into hematomas
Hemarthrosis – это кровоизлияния в суставы, которые чаще
observed in patients with hemophilia children from 1 to 8 years.
Large joints, especially the knee and
локтевые, реже тазобедренные плечевые.
- Острый гемартроз – это впервые возникшее состояние с
- Рецидивирующий гемартроз – это частые, повторные
hemorrhage in the same joint.
The frequency and location of hemorrhages in the joints depends on the severity
hemophilia and type of exercise:
- With быстром беге и прыжках могут образовываться
symmetric hematomas in the knee statutes.
- With падении на какую-либо сторону – гемартроз с
- With нагрузке на пояс верхних конечностей (подтягивание,
hanging, push-ups and other activities related to the work of the hands and
shoulder) – frequent hemorrhages in the elbow and shoulder joints, small
joints of the hands. The affected joint increases in volume,
there is swelling, pain when feeling and movement.
Hemarthrosis без лечения, особенно рецидивирующие, могут
complicated by suppuration of the contents of the joint capsule, and
organization (rebirth into scar tissue) and the formation
ankylosis (stiff fixed joint).
Hematomas of various localization
The most frequent (up to 85-100% sick) manifestation of hemophilia in children
are soft tissue hematomas arising spontaneously or with
незначительном impact. Impact strength and size follow
hematomas are often incompatible with the look of a stranger.
Hematomas in the tissues may be complicated by suppuration and compression.
Hematomas can occur in the skin, muscles, spread to
subcutaneous fatty tissue.
Increased bleeding during interventions
For children with hemophilia, any outsiders are dangerous.
invasive interventions. Invasive interventions are where
puncture, cut or any other violation is assumed
tissue integrity: injections (intramuscular, intra- and subcutaneous,
intra-articular in rare cases), surgery, tooth extraction,
carrying out scarification allergoprob and even blood sampling on
Hematuria – это выделение крови с мочой, грозный симптом,
evidence of impaired kidney function or
damage to the ureter, bladder and urethra
(urethra). If there is a tendency to
stone formation then it is necessary to be monitored regularly by a urologist with
to prevent the formation of stones and trauma
Hematuria чаще наблюдается у детей старше 5 лет. Provoking
injury to the lumbar region, bruises,
which will not cause harm to a healthy child, there may be
Spontaneous (seemingly unconditional) bleeding can
manifest from the very first days of life, it depends on the severity
- носовые кровотечения в этом случае часто возникают без
no apparent reason, often or independently do not stop.
- десневые кровотечения возникают иногда с самого раннего
age when any mechanical effect causes
blood streak in saliva, it can be an impact from messes
приборов или прорезывателя для зубов и тому подобное.
Later, when the baby starts brushing his teeth – blood in the saliva
appears daily. Such small but daily blood loss can
lead to anemization of the child (decrease in hemoglobin). To guard
must and traces of blood when biting off dense and hard products
(traces of blood on an apple or carrot).
In case of severe hemoglobin and severe
lack of coagulation factors (more often with a combined deficiency
VIII and IX factors) traces of blood can be seen already at the first
regurgitation after feeding a baby. Overly solid food
swallowing small objects by children (especially those with sharp
faces or protrusions) can injure the mucous membrane
As a rule, if in vomit or regurgitation is detected
fresh blood then damage must be sought on the mucous membrane
esophagus. If the vomit looks like “coffee grounds”, then the source
bleeding in the stomach, the blood had time to react with the salt
acid, and hydrochloric hematin was formed, which has
In the case of a source of bleeding in the stomach, it may also
there is the presence of black, often liquid, tarry stools,
which is called “melena”. In the presence of fresh blood in feces
the child can be suspected of bleeding from the lowest parts
intestine – direct and sigmoid colon.
Hemorrhage in the brain or hemorrhagic stroke is
a serious condition, with a disappointing prognosis, sometimes the first
manifestation of hemophilia in early childhood, especially when
the presence of a head injury (falling from the bed and so on). Is broken
coordination of movements, characterized by paralysis and paresis (incomplete
paralysis when the limb moves, but extremely sluggish and
uncoordinated), possible violation of spontaneous breathing,
swallowing, development of coma.
Combined clinical syndromes
The genes encoding the development of color blindness and hemophilia are located in
X chromosome at a very close distance, so there are cases
joint inheritance. At the birth of a daughter, the disease is not
develops into a clinical form, but in 50% of cases the daughter becomes
carrier of the pathological gene. Married Boy
men who are color blind and a healthy woman have a 50% chance
be color blind if the mother is the carrier of the defective gene, and the father
sick (color blindness or color blindness along with hemophilia), then the birth
a sick boy is 75%.
- Общий анализ крови – интересуют признаки снижения
hemoglobin and the usefulness of blood coagulation cells –
- Общий анализ мочи – наличие белка и крови в моче.
- Биохимический анализ крови (АлАТ, АсАТ, ГГТ, ЩФ,
serum iron, total iron binding capacity of serum
– OZHSS, serum ferritin)
- Гемостазиограмма (протромбиновое время – ПТВ или ПВ,
prothrombin index – PTI or PI, activated partial
thromboplastin time – APTT, international normalized
ratio – INR, D-dimer, FPCM – soluble fibrin-monomeric
complex, recalcification time)
- The study of plasma levels VIII and IX factors
свертывания крови, а также фактора Виллебранда. In children under 6
months the ninth blood clotting factor can be reduced
physiologically, ignorance of this fact can lead to
overdiagnosis. In identifying an isolated decrease in factor IX,
A follow-up study should be conducted at 6 and 12 months, and already
only then draw conclusions and clarify the diagnosis.
- Рентгенологическое исследование суставов и
additional research methods according to indications – ultrasound of internal
organs and kidneys, fibrogastroduodenoscopy and others.
- High-tech diagnostic methods:
- molecular genetic study to establish
наличия поврежденного гена в Х-хромосоме. As a material
studies used venous or arterial blood, less often
dry blood sample. This method is recommended for couples who have
the family has cases of hemophilia.
- пренатальная диагностика гемофилии. This is a method
carried out during pregnancy to clarify the presence of the disease
at the fetus. As the test material used nap
chorion. The material is taken in a period of 11-13 weeks.
- molecular genetic study to establish
Such studies are conducted in specialized genetic
centers, genetic counseling and have high
cost and almost 100% credibility.
Treatmentм гемофилии занимается врач-гематолог. This is a specialist in
all blood diseases. A hematologist is a leading physician who
monitors and selects patient treatment. To the sick
hemophilia often requires the help of many other doctors:
traumatologist (with hemarthrosis), surgeon (with gastric
bleeding), maxillofacial surgeon (for gingival bleeding)
and many other related professionals.
Drugs used to treat hemophilia are concentrates.
coagulation factors. These drugs are made from plasma
blood donor and are obtained by patients according to preferential prescriptions. there is
several treatment regimens:
- по требованию, то есть при возникновении кровотечений
- профилактический – это введение концентратов факторов
blood coagulation intravenously 2-3 times a week. Duration of treatment –
life. This treatment regimen is recognized as more effective, since
negates all possible complications, with adequate
surgeries can be performed in such patients
extraction of teeth and other interventions.
- самостоятельно: при возникновении кровотечение важно не
prevent massive blood loss. If the patient is on
life-long replacement therapy, then home remedies are quite
can completely stop the bleeding. If the treatment
is applied on demand, independent actions will not replace
professional help, but will help reduce blood loss on
transportation time to hospital.
- immobilization, that is immobilization of the injured limb,
using splinting with improvised means (board, a piece of dense
cardboard, ski and so on). Any limb is attached to the board.
soft cloth (elastic bandage, tools in the form of T-shirts or
scarves). When bandaging should try to pressure on the fabric
was uniform, without incision.
- pressing the source of bleeding. Can use clean
fabric or cotton-gauze swab.
- cold to the place of damage. Cold items (ice,
frozen food and so on) put in place
bleeding by wrapping a clean cloth. This method may
used at home for minor injuries and abrasions. With
damage to more or less large vessels will have no effect.
- immobilization, that is immobilization of the injured limb,
- local hemostatic therapy (hemostatic sponges)
- plaster immobilization of joints, especially large
- physiotherapy and physiotherapy
- intra-articular injections of glucocorticosteroids (prednisone,
Indications for hospitalization are bleeding dangerous to
life, intractable outpatient.
With своевременной и регулярной заместительной терапии и
lifestyle modifications (atraumatic lifestyle,
timely access to doctors) life expectancy
boys / men is almost comparable to the total in the male population.
With ранней манифестации симптомов прогноз, как правило,
Women carrying the hemophilia gene do not get sick and danger
excessive bleeding do not have. Those rare cases of female
hemophilia is severe disability and extremely unfavorable
the forecast since the onset of menstruation.
Заключение: гемофилия – это тяжелое
hereditary disease that needs life
replacement treatment and a special way of life. However, it is gratifying
know that medical science is not in place and now there is
opportunity to help such patients.