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Hemophilia

Hemophilia is a sex-linked inherited disorder. This disease occurs because of a sequential disturbance in the gene associated to cause a recessive nature. The recessive gene acquired is coded to cause impairment in the blood clotting system. Hemophilia is caused because of the deficiency of coagulation factor 8. It is also called as the anti-hemophilic factor. The origin of the factor is the sinusoidal cells of the liver and the endothelial cells in the body.


Clinical manifestations and epidemiology

Hemophilia affects the male population more than the female population. It is estimated that 1 in every 10,000 males suffer this condition. This consensus is because of the X chromosome present in the male which transfers the recessive gene. Clinical conditions related to hemophilia are predominantly because of the clotting factors VIII, IX and XI. Hemophilia is categorized into type A (VII deficiency) and type B (IX deficiency) the epidemiology ratio of these two types is 7:1. In the principle of sex linked inheritance, the gene is transmitted through the father with mother being the carrier. The generations attained this way indicates the possibility of one daughter having the hemophilic condition. The sons do not carry the recessive gene in this combination.


The manifestations of hemophilia are more predominant with underlying medical conditions such as Turner's syndrome, mosaicism and lyonisation. Hemophilic condition also indicates the presence of less proteins and also dysfunctionality associated with it. The severity of the disease is notified if the hemostatic parameters drop beneath 30-40-IU/micro liter. Severe cases of hemophilia are characterized by continuous bleeding, hemorrhage in case of traumas and post surgical bleeding. Pathologic analysis indicates the delay in the fibrin net formation after the platelet aggregation. Adverse conditions like muscle hematoma during immunization and prolonged umbilical bleeding can occur in children.

In addition to these life threatening conditions such as subdural hemorrhage, joint bleeding (hemorrhoids) and intracranial bleeding are often seen in hemophiliacs. Tumors are also seen in hemophilic patients; however these tumors are called as pseudo-tumors.


Diagnosis and treatment

Laboratory diagnosis paves the way to identify the disease in a comprehensive way. The values indicating the onset or existence of hemophilia are low , increased clotting time, prolonged APTT values and immunoassay indicating dysfunctional VIII, IX and XI clotting factors. The treatment options given to patients are mostly related to lifestyle changes such as effective antenatal and prenatal counseling followed by blood transfusion in case of hemorrhagic episodes. Fibrin glue is administered in case of dental extraction. Other recommended drugs include desmopressin acetate.

Hematologist

Hematologists are physicians who specialize in diagnosing and treating ailments related to blood, and blood systems such as bone marrow, vascular systems etc. They deal with conditions such as anemia, leukemia etc. Hematologists should be strong in the field of internal medicine, anatomy, physiology, and bio-chemistry too. A hematologist completes medical school and undergoes internship for three years in the field of internal medicine and further specializes for two years in the field of hematology. Few hematologists are also trained Oncologists, who treat problems related to blood cancer. Hematologists are specialists in treating blood disorders and anything to do with blood. They :


  • Interpret blood test results by studying the blood films and bone marrow films under the microscope.

  • Treat blood disorders like hemophilia.

  • Treat cancerous conditions linked to the blood like leukemia, lymphoma etc.

  • They deal with blood transfusion sciences etc.

  • They deal with bone marrow aspirations, bone marrow biopsy, chemotherapy etc. in a few cases they also prescribe medications for anemia etc.

  • Hematologists handle computerized diagnostic equipment and complicated bio-chemical analyses with proficiency and ease.

Modern techniques used in the field of hematology

  • Diagnostic equipment with latest computer technology helps in drawing clear conclusions on the disorders of the blood.

  • Various bio-chemical analyses help in understanding the condition of the blood and related problems in a better manner.



Hysterosalpingogram

A Hysterosalpingogram or hsg is a diagnostic x-ray of the uterus and fallopian tubes. This test allows the gynecologist to observe the inside of the uterus and fallopian tubes for any problems such as blockage of fallopian tubes, endometrial polyps, fibroids, genital tuberculosis or abnormalities in the uterine cavity. Hysterosalpingogram is also done to find problems in the uterus, such as abnormal shape and structure, an injury, adhesions or a foreign body in the uterus. HSG is often used in cases where a sterilization reversal is sought.


Hysterosalpingogram procedure

A woman must inform the radiologist if she is allergic to iodine dye, suffer pelvic or sexually transmitted disease. Women with bleeding problems such as hemophilia or those on blood thinning medicines such as aspirin must keep the doctor appraised. The gynecologist or radiologist uses a cannula to fill the uterus with iodine. The dye will flow into the fallopian tubes as the uterus is hooked with these tubes, and the pictures are taken using high steady beam fluoroscopy, as the dye passes through. In case of injury or an abnormal structure, the picture can throw up the problems. The pictures are shown on a TV monitor during the test. If another view is needs, the examination table is tilted or the patient may be asked to change positions. A blockage can prevent sperm from moving into the fallopian tube and joining an egg for fertilization to occur.


A HSG can catch if there is any problem inside her uterus that possibly prevents a fertilized egg from implanting to the uterine wall. This helps in outlining the fallopian tubes so that any abnormalities in the tubes or uterine cavity is observed. In cases of infertility due to tubal blockage, HSG is used to evaluate the location and extent of blockage. The Hysterosalpingogram procedure takes a few minutes and can be moderately uncomfortable for the woman, with possibility of cramps. Women who have tubal disease may develop pelvic infection. In rare cases, the woman develops iodine allergy. Some women notice spotting for a couple of days after the HSG.

Risks of Hysterosalpingogram

In less than 1 in 100, there may be a chance of a pelvic infection after the test. The chances are higher in those who have had pelvic infections before. Antibiotics A negligible chance of damaging or puncturing the uterus or fallopian tubes during the test does exist during the test. There could be some allergic reaction to the iodine x ray dye. If oil based dye is used, the oil can leak into the blood. This can cause blockage of blood flow to a section of the lung. But most HSG tests are water based. A woman may feel some cramping similar to menstrual cramps during the procedure and the amount of pain may depend upon the problems that the doctor finds and treats during the test. There could be some vaginal bleeding for several days after the test.

The test result is considered normal if the injected dye spills freely out from the ends of the fallopian tube and the x ray shows normal uterine shape. However, if further tests do not reveal the cause of infertility or recurrent pregnancy loss, the doctor could order for a hysteroscopy. There are chances that while a HSG could show a normal uterine shape, a hysteroscopy show abnormalities.

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Collection of Pages - Last revised Date: October 19, 2017