Eisuke Yokota

β-Thalassemia major resulting from a compound heterozygosity for the β-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene

SummaryWe describe in a Japanese family β∘-thalassemia resulting from a compound heterozygosity for a β-globin gene mutation. One mutation is a C-to-T transition at IVS-2 nucleotide position 654 on the background of Mediterranean haplotype IX. Another mutation is a G-to-A transition at IVS-2 nucleotide position 1, associated with a novel haplotype XL The occurrence of these mutations on various chromosomal backgrounds provides strong evidence for an interplay of gene migration, interallelic gene conversion, and multiple origins of the same mutation.

Hemoglobin G Waimanalo: α64 (E13) Aspartic Acid + Asparagine Observed in a Japanese Family

Hemoglobin G Waimanalo, in which an asparagine residue is substituted for an aspartic acid at position 64 (E13) of the a-chains, was found in a Japanese family. The propositus was a 40-year-old man with normal hematological parameters. Electro-phoresis of the hemolysates on a cellulose acetate sheet detected a hemoglobin variant that migrated slower than Hb A. The relative mobility was -4.88 at pH 8.6 (1). The variant, Hb A2, and Hb F comprised 24.1%, 2.0%, and 1% of the total hemoglobins, respectively (2).

A substitution of cytosine for thymine in codon 110 of the human β-globin gene is a novel cause of β-thalassemia phenotypes

SummaryWe have described a novel human globin gene mutation that produced in a Japanese family the β-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the β-globin chain greatly reduced the molecular stability of the β-globin subunit, leading to total destruction of the variant globin chains by proteolysis and hence to the β-thalassemia phenotype. The mutation could be identified after MspI digestion. This detection of the mutation on the gene level is valuable for diagnostic purposes.

A common Chinese β-thalassemia mutation found in a Japanese family

SummaryWe have identified the substitution of a thymine for a cytosine at nucleotide position 654 in the second intron of the β-globin gene that causes β-thalassemia in a Japanese family. This mutation was reported to occur rather frequently in patients of Chinese origin, but has rarely been found in other ethnic groups.

Successful Treatment of Lupus Cerebrovascular Disease with Mycophenolate Mofetil.

We report a case of neuropsychiatric systemic lupus erythematosus successfully treated with mycophenolate mofetil (MMF). The patient was a 40-year-old female who maintained with 7 mg of prednisolone plus 100 mg of azathioprine (AZ) per day. According to transient ischemic attack that occurred repeatedly and an elevated level of interleukin-6 (IL-6) in spinal fluid, she was diagnosed as having neuropsychiatric systemic lupus erythematosus (NPSLE). Initial increase in doses of prednisolone and AZ to 20 mg and 150 mg per day, respectively, was ineffective. After switching from AZ to MMF, her symptoms of NPSLE completely resolved with marked improvement of the IL-6 level in her spinal fluid, suggesting that MMF was effective.

Infected Thoracic Aortic Aneurysm Caused by Helicobacter cinaedi

The causative organism is not identified in some cases of infected aneurysms, a life-threatening condition. A 68-year-old man presented with chest/back pain and a 1-year history of intermittent fever and fatigue. Computed tomography revealed a thoracic aortic aneurysm. After several negative blood cultures, he was eventually diagnosed with an infected aneurysm caused by Helicobacter cinaedi via gene analysis of an aortic tissue specimen. As H. cinaedi is a low-virulence bacterium, infection with this pathogen should be suspected in cases of aortic aneurysms with unidentified causative organism and a long history of subjective symptoms. Detailed examinations, including polymerase chain reaction, should be conducted in such cases.

Complement receptor 1 (CR1) on erythrocytes of patients with systemic lupus erythematosus

SummaryNinety-five (85%) of the 112 Japanese patients with systemic lupus erythematosus (SLE) were negative for the complement receptor 1 (CR1) activities on erythrocytes, while 770 (91%) of the 847 normal subjects were positive for CR1, as determined by immune-adherence hemagglutination. Pedigree analyses of the normal population suggested that the phenotype of negative CR1 was determined by a autosomal recessive gene. Among 112 SLE patients, 73 (65%) showed persistently negative CR1 during remission for over 26 months of follow-up, although the CR1 levels did vary with the disease activity in 22 SLE patients. These results show that the relative risk for developing SLE in persons with negative CR1 is 19. CR1 activity appears to be an important genetic factor related the development of SLE.

A Case of the Active Intestinal Tuberculosis Detected during the Examination of the Right Pleural Effusion

A 76-year-old female was admitted to our hospital because of fever and the right pleural effusion. On the analysis of pleural effusion, the total cell count was 6720/microliter with 95% lymphocytes, and ADA was 38.1 U/l. The culture of pleural effusion was negative, and the smear and PCR for Mycobacterium were also negative. For examinations, we performed eterography that showed cicatricial strictures of intestine. X-ray examination of the colonated colonoscopy showed ulcers (circular type), shortening of the colon, Bauhins value insufficiency and diverticulum-like deformity. Then, she was diagnosed as intestinal tuberculosis. The smear and PCR of biopsy specimens from the lesion were positive, and antituberculotic therapy was effective. Finally, the culture of pleural effusion for Mycobacterium tuberculosis was positive after 8 weeks. We thought intestinal examination may be useful for the diagnosis of tuberculosis, when lymphocyte-rich exudative pleural effusion of unknown etiology is seen.

A case with Budd-Chiari syndrome associated with pregnancy.

症例は34歳女性.妊娠32週で性器出血し,部分前置胎盤早期剥離の診断で帝王切開を受けた.術後急速に大量の腹水貯留を来し,利尿剤に抵抗性であった.腹水の性状は滲出性であり,腹腔鏡肝生検で肝うつ血の所見が認められた.下大静脈造影で下大静脈の総腸骨静脈からの入口部より肝静脈流入部までの閉塞が証明され,下大静脈閉塞を伴う,Budd-Chiari症候群と診断された.妊産婦は,凝固因子の増加,線溶能の低下,血小板粘着能の上昇など血栓を形成しやすい状態にある.本例は,部分前置胎盤早期剥離と帝王切開に伴い,組織トロンボプラスチンが血中へ大量流入し,急速に血栓が形成されたものと推定された.妊娠を契機に発症したBudd-Chiari症候群は1980年までに約30例が報告されているが,本邦では,初めての報告である.