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

Prenatal diagnosis has been performed in more than 11,000 fetuses at risk for hematologic diseases. This paper summarizes the data from 30 centers from 1974 to 1985: 70% had fetal blood taken for hemoglobinopathies, of which 93% were for thalassemia and 7% for sickle disorders; 13% had DNA analyses for hemoglobinopathies, 54% for thalassemia and 46% for sickle disorders; 17% were investigated for other hematologic diseases using fetal blood, while 0.1% of the cases were studied for other diseases by DNA techniques. Error rates for all types of studies were under 1%, and fetal losses below 4%. Approximately 95% of families received safe, accurate information.
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PMID:Prenatal diagnosis of hematologic diseases, 1986 update. 312 Apr 62

alpha-thalassemia was sought by gene mapping in 258 subjects selected on the basis of origin (25%), microcytosis (7%), or origin and microcytosis combined (64%). Abnormal fragments (Xba I/probe alpha) were found in 58 cases (22.5%). Using other restriction enzymes it was possible to determine the genotype alpha-/aa in 39 patients and the genotype alpha-/alpha- in 13 patients; 2 patients also exhibited hemoglobin H (alpha-/--) disease. alpha triplication anti-3.7 kb was found in 2 subjects and zeta-thalassemia in 2 other samples. 57 out of 58 patients originated from the thalassemia belt or from Africa. alpha-thalassemia is the most frequent hemoglobinopathy (21% of patients at risk) and hematologically is characterized by microcytosis. The Hb A2 level is decreased only in the alpha-/-- form of the disease. The main advantage of diagnosing zeta-thalassemias and alpha triplications lies in the possible clinical implications in the event of association with other hemoglobinopathies or beta-thalassemia.
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PMID:[Screening for alpha-thalassemia using DNA analysis]. 320 Dec 8

Thalassemias and Hb E are highly prevalent in Thailand. Anemia is also common among the Thai population with an incidence varying between 30-80%, depending upon the area. We now report preliminary results from a population survey, conducted in Phetchaburi between September 1985 and October 1986, to determine the incidence of hemoglobinopathies and anemia.
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PMID:Prevalence of hemoglobinopathies and anemia in Phetchaburi, Thailand. 320 7

The attitudes toward screening and prenatal diagnosis for the hemoglobinopathies Hb E and alpha-thalassemia, prevalent in Southeast Asia, it were studied in Southeast Asians living in Hawaii. Since May 1985, one Laotian and two Filipino Outreach Workers were trained to make home visits to educate and recruit prospective subjects for a federally-funded thalassemia screening project. Volunteers over age 18 were interviewed to assess their comprehension about thalassemia and their attitudes toward screening, family planning, and prenatal diagnosis using structured questionnaires to measure subjective responses. Prenatal diagnosis was explained to all subjects using simple brochures in Laotian and in three Filipino dialects. Culturally oriented genetic counceling was offered to all heterozygotes, emphasizing that their status was common and benign. By July 1987, 597 adult participants had been interviewed; 262 were male, 335 female (65 pregnant); 250 were Laotian, 221 Filipino, 90 Chinese, and 36 of other races. Among female interviewees, 268 said they would want prenatal diagnosis and 196 said they would abort an affected fetus. Most interviewees, especially those who were pregnant, were in favor of: 1) public education about screening, 2) having relatives tested, and 3) prenatal diagnosis when indicated. These attitudes seemed to be influenced by Western culture and religious constraints. Comprehension of genetic concepts correlated closely with education. Ten pregnancies occurred in 16 couples where both partners were heterozygous for a thalassemia (thal) (at least two non-referred couples had homozygous alpha-thal-1 fetuses during this time). Five had amniocentesis for risk of alpha-thal homozygosity, two for risk of beta-thal homozygosity, two miscarried, and one was referred too late for fetal testing. After amniocentesis, one couple declined termination for a fetus with Hb E/beta-thal, and was sceptical of the results when their infant seemed normal at birth; one couple kept a homozygous beta-thal fetus, possibly modified by alpha-gene deletions.
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PMID:Thalassemia heterozygotes in Hawaii: ethnic attitudes toward screening and prenatal diagnosis. 320 17

Splenic dysfunction measured by pitted red cells (pit) was studied in hemoglobinopathies (SS-, SC-, and S beta-type thalassemias and CC-type hemoglobinopathy) in relation to age, in steady state, and during certain significant events. Our experience revealed that the pit count rose with age during steady state in most children with SS disease. A marked increase in pit count was noted in patients with CC disease. The pit count in four patients with S beta+ thalassemia remained normal (i.e., less than 3.5%) at all ages. In children with homozygous SS disease tested at the time of pneumococcal sepsis, the pit count was universally elevated. The pit count was in the normal range in one child with SS disease and osteomyelitis but was elevated in all others. All children had normal pit counts (less than 3.5%) at the onset of acute splenic sequestration crisis, and the counts remained normal during transfusion therapy. No correlation was detected between the pit count and the size of the spleen in patients under 1 year of age.
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PMID:Spleen dysfunction in hemoglobinopathies determined by pitted red cells. 323 12

The incidence of E hemoglobinopathies has been increasing in the United States. This is the first known case report of hemoglobin S/E in pregnancy. Management was based on the similarities of the S/E and S/beta-thalassemia hemoglobinopathies, and included partial exchange transfusion. Complications included fetal distress, congenital hydrocephalus, and cleft lip and palate. It appears that S/E and E/beta-thalassemia hemoglobinopathies may entail increased perinatal risks, but that favorable pregnancy outcomes may be anticipated with homozygous hemoglobin E or hemoglobin E trait.
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PMID:Sickle cell E hemoglobinopathy and pregnancy. 334 42

During the period of 1978 to 1986, 66 patients (31 men, 35 women) with a mean age of 28.4 years and various sickle cell hemoglobinopathies underwent 82 surgical procedures; 28 were emergencies. Fifty of the 66 patients had HbSS, 13/66 had HbSC, and 3/66 had HbS-thalassemia. All 66 patients received transfusions, although not for all procedures. In 48 patients, transfusion therapy was only administered preoperatively. Simple transfusions (1 to 10 units) were administered in 31 of 48 procedures. Exchange transfusions (1 to 6 units) were performed in nine of 48 procedures. Preoperative hematocrit ranged from 7.0% to 54.2%; of those receiving transfusions the hematocrit ranged from 22.6% to 53.7%. Intraoperative transfusions (1 to 10 units) were performed in 14 of 82 procedures; postoperative transfusions (1 to 6 units) were performed in 13 of 82 procedures. No advantage was noted in preoperative exchange transfusion as measured by a decrease in postoperative complications; a slight increase was seen in atelectasis in this group of patients with preoperative transfusions. An increase was reported in the complication rate of patients with an hematocrit of less than 30%. The type of transfusion (preoperative, intraoperative, or postoperative) administered did not appear to be related to postoperative morbidity rates. The complication rate for simple transfusions was 51.6% and for multiple transfusions, 55.6%. HbSS hemoglobinopathy had the higher complication rate. The hepatitis B surface antigen was demonstrated in four of 66 (6.1%) patients; ten of 66 (15.2%) developed alloantibodies. The benefits of transfusion therapy should be judged according to clinical needs; not all sickle cell patients need exchange or preoperative transfusion.
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PMID:Assessment of the use of transfusion therapy perioperatively in patients with sickle cell hemoglobinopathies. 335 66

Newborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized. The effects of early patient enrollment in a comprehensive treatment program on long-term morbidity and mortality are reported. From 1975 to 1985, 84,663 newborns were screened regardless of race or ethnic background. Bart's hemoglobin was present in 5%, hemoglobin AS in 2.6%, and hemoglobin AC in 0.75%. Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-beta +-thalassemia, and three hemoglobin S-beta O-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight hemoglobin FE, ten hemoglobin F only, two hemoglobin H). Compared with other newborn screening programs in California, (congenital hypothyroidism, 1:3,849; phenylketonuria 1:22,474, galactosemia 1:74,103), hemoglobinopathies are the most prevalent congenital disease. Eighty-one newborns with sickle cell disease were followed for 7.2 years. Patients experienced 513 hospitalizations, including 13 episodes of sepsis with or without meningitis and ten acute sequestration crises. The overall mortality rate for patients with sickle cell anemia diagnosed in the newborn period was 1.8%. In comparison, the clinical course of 64 patients with sickle cell anemia diagnosed after 3 months of age and followed for an average of 9.4 years was analyzed. Five of these patients died. In two of these, sickle cell anemia was diagnosed at the time of the death.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Newborn screening for sickle cell disease: effect on mortality. 336 74

The authors investigated the incidence of thalassemia traits and hemoglobinopathies in western Liguria, where up to 70% of people comes from other italian regions, particularly from the South. The authors screened 442 primary school pupils in Albenga and Andora (Savona). Laboratory investigations permitted to detect 19 thalassemia trait carrier subjects (4.30% of the total examined): 12 of them were diagnosed heterozygous for beta-thalassemia, 6 for alpha-thalassemia, and 1 for Hb S. Authors would underline that more than half of the screening positive subjects resulted carrier of beta-thalassemia or Hb S trait, both potentially able to give origin to severe diseases: homozygous beta-thalassemia, sickle cell anemia, and beta-thalassemia/Hb S double heterozygosity.
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PMID:[Epidemiologic research for thalassemia and hemoglobinopathy traits in the territory of a local health unit in Liguria]. 337 29

The DF given weekly by the RBIT in 14 thalassemia/hemoglobinopathy patients decreased the frequency of URIs and febrile illnesses in 5/10 patients. Five of the six patients had absence of frequent enteritis. There were no instances of pneumonia and otitis media in two patients with frequent infections before DF. Skin color was improved within 3 months. Most of the patients became more active at the same hematocrit level. The height and weight in eight patients was normal. The total number of blood transfusions in all patients was significantly decreased. It is advisable to use weekly DF infusion by RBIT in the patient who cannot afford to use the infusion pump and the full program of iron chelation.
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PMID:Rubber band technique for slow subcutaneous infusion of desferrioxamine (Desferal). 339 May 34


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