Thalassemia
N Althalasamyat are a heterogeneous group of disorders characterized by a disorder when that occurs to one or more series of chains Algluben normal alpha or beta machine blood Vinqs production and increase contrast produce another series. And Altalasamyat generally do not contain abnormal hemoglobin sickle cell Kalkhaddab and lies imbalances disorder production normal Alkhaddabat. However this occurring genetic mutations at each some reported relatively atypical Khaddabat. The most important patterns Althalasemia is alpha and beta.
Alpha - Thalasemia
Abound in South East Asia and Asia and less than in other regions of the world, caused by a genetic disorder that occurs to a series alpha Algluben in normal hemoglobin. Since hemoglobin normal on three types of hemoglobin A consists of beta -2 - and alpha - 2 - and hemoglobin A2 consists of gamma -2 - and alpha -2 - and hemoglobin F and Series Alpha common with all these Alkhaddabat the discomfiture lead to a decrease in the production of these Alkhaddabat three. And the extent to which Taatthbt alpha gene result Talasamyat very different symptoms. According Shidadtha distinguishes them four groups are 2 THAL alpha or thalassemia compatible zygote (see attached table) The first group is not symptom nor anemia except low MCV; MCH while the resulting anemia small pellets and moderate intensity in the second set, but disease hemoglobin H Viazahr degree variable of hemolytic anemia moderate severity and is characterized by the presence of inclusions INCLUSIONS of erythropoiesis caused by deposition of hemoglobin is hard B4 The syndromes severe compatible zygote shall be fetus where Mstskie and die in utero or Balamas and if it is born alive, lasting life only a few hours and be Mstskie and edematous and minus weight with the presence of an enlarged liver and spleen.
The reason for the hemoglobin) H 4B) and hemoglobin Bart BART is an activity other Algluben chains when Taatthbt or lose the alpha chain. If increased activity chain beta resulting hemoglobin H any (4B) If more active chain gamma resulting hemoglobin Bart (Hb-Bart) If discourage chain alpha partly consists hemoglobin Lepore (Hb-Lepore), which consists of chains thousand together united with parts of beta and delta chains.
The diagnosis of alpha Althalasemia trait is not easy nor is only studying the situation of the family genetic and genetic studies, but doubted its existence in the case of a small red cells and depigmented was not caused by iron deficiency or trait Althalasemia beta.
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Beta - Thalasemia
Abound beta - Thalasemia in our country and in the Mediterranean basin unlike alpha - Thalasemia that abound in East Asia. And is caused by a genetic defect that affects a series Algluben beta Vinqs produce hemoglobin A and increasing the netting production chains Delta and gamma and thus increases hemoglobin 2A and F and Talasemia many kinds What matters is to beta Thalasemia to the large spread in our country, so when you mention the word Thalalsemia henceforth mean the beta Thalasemia. Which two basic types, heterogeneous zygote and compatible zygote.
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Althalasemia major beta
And called Althalasemia compatible zygote or Cooley's anemia and lose Genta beta and consists of Slseltehma something of hemoglobin A and if the amount of it is a little do not care.
The excess amount of the alpha Algluben that breeds opposition to the beta chain ends erythrocyte sedimentation within the wholesale is affected by breed red on one side and shorten the age of erythropoiesis second hand. And be the blood resulting Allafal cause a sharp widening in bone marrow long distances in the skull and facial bones along with blood generated from members of extramedullary such as the liver and spleen. And bony changes in the skull gives hair standing view and breadth of fresh tissue and caves distances in the long bones and small shows periosteum thin peel and a little intensity. Then there will be growth retardation and delayed puberty, it seems the child is small in size and less healthy older than his peers, although he lived to adulthood is a minor transgenetic. Since the spleen is playing a key role in the book erythropoiesis distorted and Ikhrabha it gradually swells and extends to the bottom up to the left iliac fossa and put pressure on neighboring organs symptoms appear.
- Vessels assets:
Look at the bloody smear red cells is very small and the other large third and two goals and fragmented fourth and fifth nucleated and in large numbers and are a high proportion of reticulocytes and a high number of leukocytes. And reduces the number of red blood cells and the amount of hematocrit and hemoglobin. And the hemoglobin level is one who has not transferred his blood between 3-6 g / 100 ml. As shall be pure plus cellular and Balkhash in the red sentence to become popular wholesale rate to wholesale red 2/1 or 1/1 has reversed becomes 1/2 or 1/3 instead of the normal rate of 2-5/1. If the iron Bmllonath color plus found. The gel electrophoresis hemoglobin shows a sharp rise in hemoglobin F 80-90%, and a decrease in hemoglobin A 0-3% and variable amounts of hemoglobin 2A may be together or slightly plus 2-5%. Early death was common before the passage of two or three years of the child's age, but today thanks to blood transfusions regulator has become possible to maintain a constant level of hemoglobin between 8-10 g / 100 ml and greatly decreased the incidence of bone growth disorder. The absolute increase the absorption of iron and increase iron resulting from blood transfusion to various complications.
Althalasemia beta Minor
Called an attribute or trait Altalasemia
Also called Althalasemia heterogeneous zygote or trait Althalasemia. And characterized by a lack of production of the beta chain, so do not pretend loud signs and symptoms that we found in major Althalasemia, hence the name micro Althalasemia.
- The clinical manifestations of trait Althalasemia:
Is the presence of anemia moderate intensity is not commensurate with the small red blood cells for hemoglobin, which ranges between 10-12 g / 100 ml, so be MCV low and often up to 60 Vmto liters, for this see erythropoiesis and Alturnseverin in serum together and be Baruben serum plus a little. And hemoglobin electrophoresis reveals the presence of hemoglobin A high percentage of between 90-95%, and hemoglobin 2A be a plus slightly by between 5-7%, while hemoglobin F, rising at 50% of the patients by between 2-10% of that failure to increase does not deny the diagnosis .
This is the clinical picture and laboratory Talasemia Minor that should set it apart from iron deficiency anemia who err in diagnosing many doctors in iron deficiency anemia low serum iron and rises very total capacity Association of Iron, and enlarged spleen usually only when a few people. May share the trait abnormal hemoglobin with Altalasemia micro be added symptoms previous to clinical manifestations. The sickle cell gene existed with micro Altalasemia, called the situation then Bkhalh sickle Altalasemia.
N Althalasamyat are a heterogeneous group of disorders characterized by a disorder when that occurs to one or more series of chains Algluben normal alpha or beta machine blood Vinqs production and increase contrast produce another series. And Altalasamyat generally do not contain abnormal hemoglobin sickle cell Kalkhaddab and lies imbalances disorder production normal Alkhaddabat. However this occurring genetic mutations at each some reported relatively atypical Khaddabat. The most important patterns Althalasemia is alpha and beta.
Alpha - Thalasemia
Abound in South East Asia and Asia and less than in other regions of the world, caused by a genetic disorder that occurs to a series alpha Algluben in normal hemoglobin. Since hemoglobin normal on three types of hemoglobin A consists of beta -2 - and alpha - 2 - and hemoglobin A2 consists of gamma -2 - and alpha -2 - and hemoglobin F and Series Alpha common with all these Alkhaddabat the discomfiture lead to a decrease in the production of these Alkhaddabat three. And the extent to which Taatthbt alpha gene result Talasamyat very different symptoms. According Shidadtha distinguishes them four groups are 2 THAL alpha or thalassemia compatible zygote (see attached table) The first group is not symptom nor anemia except low MCV; MCH while the resulting anemia small pellets and moderate intensity in the second set, but disease hemoglobin H Viazahr degree variable of hemolytic anemia moderate severity and is characterized by the presence of inclusions INCLUSIONS of erythropoiesis caused by deposition of hemoglobin is hard B4 The syndromes severe compatible zygote shall be fetus where Mstskie and die in utero or Balamas and if it is born alive, lasting life only a few hours and be Mstskie and edematous and minus weight with the presence of an enlarged liver and spleen.
The reason for the hemoglobin) H 4B) and hemoglobin Bart BART is an activity other Algluben chains when Taatthbt or lose the alpha chain. If increased activity chain beta resulting hemoglobin H any (4B) If more active chain gamma resulting hemoglobin Bart (Hb-Bart) If discourage chain alpha partly consists hemoglobin Lepore (Hb-Lepore), which consists of chains thousand together united with parts of beta and delta chains.
The diagnosis of alpha Althalasemia trait is not easy nor is only studying the situation of the family genetic and genetic studies, but doubted its existence in the case of a small red cells and depigmented was not caused by iron deficiency or trait Althalasemia beta.
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Beta - Thalasemia
Abound beta - Thalasemia in our country and in the Mediterranean basin unlike alpha - Thalasemia that abound in East Asia. And is caused by a genetic defect that affects a series Algluben beta Vinqs produce hemoglobin A and increasing the netting production chains Delta and gamma and thus increases hemoglobin 2A and F and Talasemia many kinds What matters is to beta Thalasemia to the large spread in our country, so when you mention the word Thalalsemia henceforth mean the beta Thalasemia. Which two basic types, heterogeneous zygote and compatible zygote.
-------------------------------------------------- ------------------------------
Althalasemia major beta
And called Althalasemia compatible zygote or Cooley's anemia and lose Genta beta and consists of Slseltehma something of hemoglobin A and if the amount of it is a little do not care.
The excess amount of the alpha Algluben that breeds opposition to the beta chain ends erythrocyte sedimentation within the wholesale is affected by breed red on one side and shorten the age of erythropoiesis second hand. And be the blood resulting Allafal cause a sharp widening in bone marrow long distances in the skull and facial bones along with blood generated from members of extramedullary such as the liver and spleen. And bony changes in the skull gives hair standing view and breadth of fresh tissue and caves distances in the long bones and small shows periosteum thin peel and a little intensity. Then there will be growth retardation and delayed puberty, it seems the child is small in size and less healthy older than his peers, although he lived to adulthood is a minor transgenetic. Since the spleen is playing a key role in the book erythropoiesis distorted and Ikhrabha it gradually swells and extends to the bottom up to the left iliac fossa and put pressure on neighboring organs symptoms appear.
- Vessels assets:
Look at the bloody smear red cells is very small and the other large third and two goals and fragmented fourth and fifth nucleated and in large numbers and are a high proportion of reticulocytes and a high number of leukocytes. And reduces the number of red blood cells and the amount of hematocrit and hemoglobin. And the hemoglobin level is one who has not transferred his blood between 3-6 g / 100 ml. As shall be pure plus cellular and Balkhash in the red sentence to become popular wholesale rate to wholesale red 2/1 or 1/1 has reversed becomes 1/2 or 1/3 instead of the normal rate of 2-5/1. If the iron Bmllonath color plus found. The gel electrophoresis hemoglobin shows a sharp rise in hemoglobin F 80-90%, and a decrease in hemoglobin A 0-3% and variable amounts of hemoglobin 2A may be together or slightly plus 2-5%. Early death was common before the passage of two or three years of the child's age, but today thanks to blood transfusions regulator has become possible to maintain a constant level of hemoglobin between 8-10 g / 100 ml and greatly decreased the incidence of bone growth disorder. The absolute increase the absorption of iron and increase iron resulting from blood transfusion to various complications.
Althalasemia beta Minor
Called an attribute or trait Altalasemia
Also called Althalasemia heterogeneous zygote or trait Althalasemia. And characterized by a lack of production of the beta chain, so do not pretend loud signs and symptoms that we found in major Althalasemia, hence the name micro Althalasemia.
- The clinical manifestations of trait Althalasemia:
Is the presence of anemia moderate intensity is not commensurate with the small red blood cells for hemoglobin, which ranges between 10-12 g / 100 ml, so be MCV low and often up to 60 Vmto liters, for this see erythropoiesis and Alturnseverin in serum together and be Baruben serum plus a little. And hemoglobin electrophoresis reveals the presence of hemoglobin A high percentage of between 90-95%, and hemoglobin 2A be a plus slightly by between 5-7%, while hemoglobin F, rising at 50% of the patients by between 2-10% of that failure to increase does not deny the diagnosis .
This is the clinical picture and laboratory Talasemia Minor that should set it apart from iron deficiency anemia who err in diagnosing many doctors in iron deficiency anemia low serum iron and rises very total capacity Association of Iron, and enlarged spleen usually only when a few people. May share the trait abnormal hemoglobin with Altalasemia micro be added symptoms previous to clinical manifestations. The sickle cell gene existed with micro Altalasemia, called the situation then Bkhalh sickle Altalasemia.
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