Finger (toe) bone infarction

Introduction Finger infarction: crescent cell anaemia (sickle-cell anemia) is an inherited blood disease. It can also be a homozygous sickle cell disease, and its clinical manifestations are: varying degrees of hemolytic anemia, mild jaundice. Vascular occlusion crisis is a prominent manifestation, often severe pain in the trunk and limbs, including visceral, bone, joint and muscle pain, especially in the metacarpal, epiphyseal and finger (toe) infarction, infection, dehydration, Hypoxia and acidosis are the incentives. Visceral and cerebrovascular infarction have corresponding symptoms and signs. If both couples are carriers of sickle cell anemia genes, 25% of their children may be severe sickle cell anemia, and 50% may be mild sickle cell anemia. There are currently 50 million people worldwide facing the threat of sickle cell anemia. In Africa alone, 300,000 newborns are carriers of sickle cell anemia genes, and 50% of them are born less than 5 years old.

Cause

Sickle cell anemia is caused by a point mutation in the chain gene, and a single base mutation occurs in the gene of globin. The 6th codon of the normal gene is GAG, which encodes glutamic acid, and is mutated to GTG, which encodes valine, which makes it HbS. In the homozygous state, when HbS is formed, HbS aggregates into polycondensation under deoxidation. The formation of the polymer is parallel to the membrane and the contact with the cell membrane is very close. Therefore, when the polymer reaches a certain amount, the cell membrane changes from a normal biconcave disk shape to a sickle shape. The cell is stiff. , poor deformability, easy to break and hemolysis, resulting in vascular obstruction, tissue hypoxia, injury, necrosis.

If the child inherits an abnormal gene from both parents, he will develop sickle cell anemia. However, if the child inherits only one abnormal gene from one parent, he will have the characteristic of sickle cell anemia, that is, although there will be no symptoms, the abnormal gene will be passed on to the next generation.

an examination

Related inspection

Scorpion erythrocyte protein electrophoresis hemoglobin hemoglobin electrophoresis urine routine

The gene diagnosis of sickle cell anemia can be performed by PCR-restriction endonuclease spectroscopy. The globin gene fragment containing the mutation site is amplified from the patient's genomic DNA by PCR, and then the appropriate restriction enzyme hydrolysis is selected. The PCR product is judged based on the number and size of fragments of the digested product on the electrophoresis pattern. Southern blot hybridization analysis can also be performed with a deliberate oligonucleotide probe to judge according to the hybridization map.

Symptoms of the disease include: lack of energy and shortness of breath, symptoms of jaundice, severe pain in the bones and chest or abdomen due to obstruction of a narrow blood vessel. Dehydration, colds or serious infections are more likely to cause the aforementioned symptoms.

Children with sickle cell anemia are more likely to have diplococcus pneumonia. Sometimes there is a lack of blood supply to the kidneys, spleen or brain, which can cause damage to these organs.

Differential diagnosis

Swelling refers to the increase in volume of tissue due to inflammation or congestion. The soft atrophy of the nail is a clinical manifestation of pseudohypoparathyroidism. Patients with pseudohypoparathyroidism often find rough skin, hyperpigmentation, hair loss, fingernails, soft and atrophy, and even shedding; cataracts can occur in the intraocular lens.

The gene diagnosis of sickle cell anemia can be performed by PCR-restriction endonuclease spectroscopy. The globin gene fragment containing the mutation site is amplified from the patient's genomic DNA by PCR, and then the appropriate restriction enzyme hydrolysis is selected. The PCR product is judged based on the number and size of fragments of the digested product on the electrophoresis pattern. Southern blot hybridization analysis can also be performed with a deliberate oligonucleotide probe to judge according to the hybridization map.

Symptoms of the disease include: lack of energy and shortness of breath, symptoms of jaundice, severe pain in the bones and chest or abdomen due to obstruction of a narrow blood vessel. Dehydration, colds or serious infections are more likely to cause the aforementioned symptoms.

Children with sickle cell anemia are more likely to have diplococcus pneumonia. Sometimes there is a lack of blood supply to the kidneys, spleen or brain, which can cause damage to these organs.

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