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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

delta beta-Thalassemia and hereditary persistence of fetal hemoglobin (HPFH) are inherited disorders characterized by the persistent synthesis of fetal hemoglobin (HbF) during adult life. The Spanish type of delta beta-thalassemia is a mild thalassemic condition due to a large deletion starting at the Alu I repeat between the A gamma and delta-globin genes immediately 3' to the RIH probe and extending 11 and 17 kb downstream of the 3' endpoints of HPFH 1 and HPFH 2, respectively. Using probes from the Spanish (delta beta)zero-thalassemic DNA, the 3' breakpoint region has been mapped to a point approximately 8.5 to 9.0 kb downstream from that of HPFH type 1 and, as we know the restriction sites 3' to this breakpoint, the presence of the deletion can be identified with the polymerase chain reaction (PCR). In the present study, a PCR method using three specific oligonucleotides has been developed for the identification of the Spanish (delta beta)zero-thalassemia in 100 patients with delta beta-thalassemia (99 heterozygotes with mild anemia, decreased mean corpuscular volume, and 5% to 15% HbF, and one homozygote with 100% HbF and thalassemia intermedia phenotype). We conclude that the finding of the Spanish type of (delta beta)zero-thalassemia in all the patients studied here suggests Spain as the most probable origin of this thalassemic phenotype. Moreover, the amplification of the fragment encompassing the deletion junction and normal sequence is useful for the rapid molecular detection of Spanish (delta beta)zero-thalassemia.
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PMID:Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction. 152 Aug 81

A new deletion of approximately 8.5 kb that includes the alpha 2-, alpha 1-, and theta 1-globin genes was detected in a father and newborn son of a black family from Georgia. In the newborn baby the chromosome with the deletion occurred together with a rightward (-alpha 3.7) deletion chromosome. The resulting Hb H disease was detected at birth by the high level of Hb Bart's; a moderate anemia with severe microcytosis and hypochromia was present at the age of 5 months. A review of cord blood testing results for a period of over 20 years, involving at least 200,000 black newborns, indicated that this baby was the first with a level of Hb Bart's in excess of 10-15%; this underscores the rarity of alpha-thalassemia-1 in this population.
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PMID:A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease. 155 58

Microcytic anemia is defined as the presence of small, often hypochromic, red blood cells in a peripheral blood smear and is usually characterized by a low MCV (less than 83 micron 3). Iron deficiency is the most common cause of microcytic anemia. The absence of iron stores in the bone marrow remains the most definitive test for differentiating iron deficiency from the other microcytic states, ie, anemia of chronic disease, thalassemia, and sideroblastic anemia. However, measurement of serum ferritin, iron concentration, transferrin saturation and iron-binding capacity, and, more recently, serum transferrin receptors may obviate proceeding to bone marrow evaluation. The human body maintains iron homeostasis by recycling the majority of its stores. Disruptions in this balance are commonly seen during menstruation, pregnancy, and gastrointestinal bleeding. Although the iron-absorptive capacity is able to increase upon feedback regarding total body iron stores or erythropoietic activity, this physiologic response is minimal. Significant iron loss requires replacement with iron supplements. The vast majority of patients respond effectively to inexpensive and usually well-tolerated oral iron preparations. In the rare circumstances of malabsorption, losses exceeding maximal oral replacement, or true intolerance, parenteral iron dextran is effective. In either form of treatment, it is necessary to replete iron stores in addition to correcting the anemia.
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PMID:Microcytic anemia. Differential diagnosis and management of iron deficiency anemia. 157 56

We have identified three types of alpha-thalassemia in 28 members of an Indian family from Durban, South Africa. The rare South African (SA) type of alpha-thalassemia-1, which is characterized by an approximately 23-kb deletion involving the psi zeta, psi alpha 2, psi alpha 1, alpha 2, alpha 1, and theta 1 genes, was present in 13 members [6 simple heterozygotes, 5 with Hb H disease of the --(SA)/-alpha(-3.7 kb) type, and 2 with Hb H disease of the --(SA)/-alpha(-4.2 kb) type]. Seven others were heterozygotes for alpha-thalassemia-2 (-3.7 kb), 1 was homozygous for this deletion, and 1 was a compound heterozygote [-alpha(-3.7 kb/-alpha(-4.2 kb)]. Hematological and hemoglobin composition data indicated a moderate anemia in all 7 patients with Hb H disease with severe microcytosis and hypochromia, no elevation of gamma-chain synthesis, low levels of Hb A2 (0.3-0.7%), and low levels of Hb H. The most severe disease was present in 2 teenagers with the --(SA)/-alpha(-4.2 kb) combination.
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PMID:Combinations of three different forms of alpha-thalassemia in a large Indian family from Durban, South Africa: hematological observations. 158 66

We have studied a Portuguese family with a dominant beta-thalassaemia trait that was present in one member of each of three generations. It was characterized by a moderate anaemia, microcytosis and hypochromia, anisopoikilocytosis, Heinz body formation in peripheral red cells, splenomegaly, and a blood transfusion requirement during pregnancy. Sequence analyses of amplified DNA detected a deletion of (G) TG.GCT.GGT.GT(G) at codons 134-137 (Val.Ala.Gly.Val) and the insertion of (G)GC.AG(G) (Gly.Arg) at the same location. Thus, the resulting beta chain has an abnormal structure only at codons 134-137 and is two residues shorter than the normal 146 residues. This chain could not be detected in circulating red cells and must be degraded rapidly by proteolysis because the Heinz bodies consisted mainly of alpha chains.
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PMID:Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene. 165 62

The "eradication of malaria" in Taiwan was announced by WHO in 1965. From 1966 to 1989, 919 malaria cases were detected in Taiwan. Of these cases, 803 were classified as imported malaria. During 1977 to 1989, our hospital collected 11 cases of imported malaria, 6 of Plasmodium falciparum (PF), including 1 suspicious case, 2 of Plasmodium vivax (PV), 1 of mixed infection (PF plus PV), and 2 unclassified. Most of the patients presented clinically with fever and chills. Hepatosplenomegaly was the most common abnormal finding during the physical examination. Jaundice and anemia occurred in the more severe cases. No cases had lymphadenopathy which is helpful in making a differential diagnosis. Six cases had thrombocytopenia which may be considered as an indirect sign in the diagnosis. The MCV levels were within normal limits in all of the cases. This may indirectly imply a potential protective effect against malaria infection in cases of congenital hemoglobinopathy such as thalassemia or G6PD deficiency. Initially, 10 cases were given "standard treatment", which consisted of chloroquine 450 mg qd for 2 days then 300 mg qd for 2 days and primaquine 15 mg qd for 2 weeks. Four cases of chloroquine resistance were encountered, all in cases with PF infection. Two cases were grade I delayed type resistance and were successfully treated with Fansidar, tetracycline and quinine. Two cases were grade II resistance and presented clinically as cerebral malaria. Intravenous quinine was given plus Fansidar and tetracycline. The cases were resolved without sequele or recurrence. None of the cases, except for 2, received chemoprophylaxis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Imported case of malaria in Taiwan: analysis of 11 cases]. 167 9

This study was conducted on sickle cell anaemia (SCA) patients from the south-western province (SWP) of Saudi Arabia to determine the effect of thalassaemias, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and Hb F level on the clinical presentation of sickle cell anaemia. The results showed that associated alpha-thalassaemia improved the haematological parameter values while associated G-6-PD deficiency and high Hb F level did not play a significant role in amelioration of the disease in these patients. Hb S/beta(0) -thalassaemia cases showed a severe anaemia similar to the SCA patients without alpha-thalassaemia. However, considerable improvement of the haematological parameters were found in patients with S/beta(0)-thalassaemia and associated alpha-thalassaemia. This paper reveals that alpha-thalassaemia may partially ameliorate the clinical manifestations of SCA in Saudi patients from the SWP, while high Hb F level and G-6-PD deficiency do not modify SCA to any statistically significant extent.
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PMID:Effect of alpha thalassaemia, G-6-PD deficiency and Hb F on the nature of sickle cell anaemia in south-western Saudi Arabia. 170 30

Screening for genetic abnormalities is an integral part of obstetrics. Prior to initiating screening, however, several prerequisites must be met: (i) capacity to alter clinical management, (ii) cost effectiveness, (iii) reliable means (usually assays) of assessment, and (iv) capacity to handle problems. In all pregnancies one should determine in systematic fashion whether family history places a pregnant woman at increased risk over the background risk of 2-3% congenital anomalies. All women over age 35 years at delivery should be offered prenatal cytogenetic testing, and women of all ages should be offered maternal serum alpha-fetoprotein screening for neural tube defects. Screening ostensibly normal populations is appropriate in certain ethnic groups to determine heterozygosity for selected disorders: Blacks for sickle-cell anaemia, Mediterranean people for beta-thalassaemia, Southeast Asians and Filipinos for alpha-thalassaemia, Ashkenazi Jews and perhaps French-Canadians for Tay-Sachs disease. Cystic fibrosis screening (delta F508 mutations) is not currently recommended for the general populations, but should be offered to relatives of an individual having delta F508 cystic fibrosis. Irrespective of the extent of screening programmes for Mendelian traits, the mutant allele will remain in the general population because by far the greatest genetic load lies in clinically normal heterozygotes, affected contributing far less to the load despite the obvious clinical effect.
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PMID:Screening for fetal and genetic abnormalities. 172 71

We have described a a 23-year-old black woman with sickle cell beta-thalassemia who had a urinary tract infection and who was incidentally found to be pancytopenic. Although her anemia was categorized as "normocytic, normochromic" by an electronic particle counter, evaluation of the pancytopenia confirmed unsuspected pernicious anemia. Greater vigilance and a higher index of suspicion are crucial for early diagnosis of pernicious anemia in patients with other known hemoglobinopathies.
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PMID:Pancytopenia caused by unsuspected pernicious anemia complicating sickle cell beta-thalassemia. 173 95

In beta thalassaemia patients the subcutaneous desferrioxamine chelation therapy is performed routinely. Rare indications are hypoplastic anaemia, congenital dyserythropoetic anaemia and Fanconi anaemia. We initiated the chelation agent in three patients with the above mentioned diagnoses. The beginning of treatment in hypoplastic anaemia depends upon the quantity of red cell transfusions, whereas in dysterythropoetic anaemia the increased intestinal iron absorption has to be taken into consideration. Aim of the therapy is a negative iron balance. The evaluation of the iron balance is relatively simple. The girl with hypoplastic anaemia has been treated for 1.5 years. Within this time she received 11,680 mg iron by blood transfusions. The urinary iron output was 7112 mg. Depending on the analyzing method, the mean fecal iron excretion amounts 36.5% or 61% of the global excretion. Laboratory findings and clinical course are in favour to the aimed negative iron balance in two patients.
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PMID:[Rare indications for iron chelation therapy with desferrioxamine]. 174 30


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